MUSCLE & NERVE, ISSN 0148-639X, 03/2019, Volume 59, Issue 3, pp. 357 - 362
Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and...
congenital myopathies | CENTRONUCLEAR | GENE | myotubularin (MTM1) | striated preferentially expressed protein kinase (SPEG) | centronuclear myopathies | next generation sequencing (NGS) | DYNAMIN-2 | cardiomyopathy | NEUROSCIENCES | CLINICAL NEUROLOGY | Nervous system diseases | Genetic disorders | Genomics | Genetic research | Genetic aspects | Research institutes | Nucleotide sequencing | Protein kinases | DNA sequencing | Correlation | Phenotypes | Identification methods | Cardiomyopathy | Muscles | Genomes | Kinases | Patients | Gene sequencing | Proteins | Genotype & phenotype | Dilated cardiomyopathy | Protein kinase | Biopsy | Ophthalmoplegia | Mutation | Genotypes
congenital myopathies | CENTRONUCLEAR | GENE | myotubularin (MTM1) | striated preferentially expressed protein kinase (SPEG) | centronuclear myopathies | next generation sequencing (NGS) | DYNAMIN-2 | cardiomyopathy | NEUROSCIENCES | CLINICAL NEUROLOGY | Nervous system diseases | Genetic disorders | Genomics | Genetic research | Genetic aspects | Research institutes | Nucleotide sequencing | Protein kinases | DNA sequencing | Correlation | Phenotypes | Identification methods | Cardiomyopathy | Muscles | Genomes | Kinases | Patients | Gene sequencing | Proteins | Genotype & phenotype | Dilated cardiomyopathy | Protein kinase | Biopsy | Ophthalmoplegia | Mutation | Genotypes
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2017, Volume 134, Issue 6, pp. 889 - 904
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected...
Pathology | Neurosciences | Medicine & Public Health | X-linked myotubular myopathy | Congenital myopathy | X inactivation | Centronuclear myopathy | MTM1 | PROLONGS SURVIVAL | PELIOSIS HEPATIS | X-CHROMOSOME-INACTIVATION | NECKLACE FIBERS | CONGENITAL MYOPATHIES | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | RYR1 MUTATIONS | DOMINANT CENTRONUCLEAR MYOPATHY | CONTIGUOUS GENE SYNDROME | LINKED MYOTUBULAR MYOPATHY | MALE HYPOGENITALISM | Severity of Illness Index | Diagnosis, Differential | Myopathies, Structural, Congenital - physiopathology | Humans | Middle Aged | Child, Preschool | Myopathies, Structural, Congenital - genetics | Phenotype | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Adolescent | Myopathies, Structural, Congenital - pathology | Adult | Female | Heterozygote | Myopathies, Structural, Congenital - diagnosis | Aged | Mutation | Child | Cohort Studies | Genetic aspects | Nucleotide sequencing | DNA sequencing | Neonates | MTM1 gene | Respiratory function | Genetic counseling | Ophthalmoplegia | Females | Males | Nuclei | Myopathy | Life Sciences | Cellular Biology | Santé publique et épidémiologie
Pathology | Neurosciences | Medicine & Public Health | X-linked myotubular myopathy | Congenital myopathy | X inactivation | Centronuclear myopathy | MTM1 | PROLONGS SURVIVAL | PELIOSIS HEPATIS | X-CHROMOSOME-INACTIVATION | NECKLACE FIBERS | CONGENITAL MYOPATHIES | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | RYR1 MUTATIONS | DOMINANT CENTRONUCLEAR MYOPATHY | CONTIGUOUS GENE SYNDROME | LINKED MYOTUBULAR MYOPATHY | MALE HYPOGENITALISM | Severity of Illness Index | Diagnosis, Differential | Myopathies, Structural, Congenital - physiopathology | Humans | Middle Aged | Child, Preschool | Myopathies, Structural, Congenital - genetics | Phenotype | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Adolescent | Myopathies, Structural, Congenital - pathology | Adult | Female | Heterozygote | Myopathies, Structural, Congenital - diagnosis | Aged | Mutation | Child | Cohort Studies | Genetic aspects | Nucleotide sequencing | DNA sequencing | Neonates | MTM1 gene | Respiratory function | Genetic counseling | Ophthalmoplegia | Females | Males | Nuclei | Myopathy | Life Sciences | Cellular Biology | Santé publique et épidémiologie
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2007, Volume 17, Issue 4, pp. 338 - 345
Abstract Centronuclear myopathy is a genetically heterogeneous congenital myopathy. Whilst mutations in the myotubularin (MTM1) gene are implicated in the...
Neurology | Centronuclear myopathy (CNM) | Skeletal muscle ryanodine receptor ( RYR1) gene | Dynamin 2 ( DNM2) gene | Muscle magnetic resonance imaging | Myotubular myopathy (MTM) | Calcium homeostasis | Myotubularin ( MTM1) gene | Myotubularin (MTM1) gene | Skeletal muscle ryanodine receptor (RYR1) gene | Dynamin 2 (DNM2) gene | X-INACTIVATION | MULTI-MINICORE DISEASE | myotubular myopathy (MTM) | MALIGNANT HYPERTHERMIA | calcium homeostasis | RODS | NEUROSCIENCES | muscle magnetic resonance imaging | CLINICAL NEUROLOGY | skeletal muscle ryanodine receptor (RYR1) gene | centronuclear myopathy (CNM) | MTM1 GENE | myotubularin (MTM1) gene | CONGENITAL MYOPATHY | AUTOSOMAL-DOMINANT | dynamin 2 (DNM2) gene | LINKED MYOTUBULAR MYOPATHY | CENTRAL CORE DISEASE | Myopathies, Structural, Congenital - physiopathology | Calcium - metabolism | Humans | Magnetic Resonance Imaging - methods | Serine - genetics | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Mutation, Missense | DNA Mutational Analysis - methods | Dose-Response Relationship, Drug | Ryanodine Receptor Calcium Release Channel - genetics | Muscle, Skeletal - drug effects | Muscle, Skeletal - physiopathology | Potassium Chloride - pharmacology | Adolescent | Myopathies, Structural, Congenital - pathology | Female | Muscle, Skeletal - pathology | Genes, Dominant - genetics | Leucine - genetics | Cresols - pharmacology | Gene mutations | Genetic research | Genetic aspects | Calcium | Ryanodine Receptor Calcium Release Channel | Serine | Biochemistry, Molecular Biology | Potassium Chloride | Leucine | Life Sciences | Magnetic Resonance Imaging | Myopathies, Structural, Congenital | Genes, Dominant | DNA Mutational Analysis | Cresols | Muscle, Skeletal | Molecular biology
Neurology | Centronuclear myopathy (CNM) | Skeletal muscle ryanodine receptor ( RYR1) gene | Dynamin 2 ( DNM2) gene | Muscle magnetic resonance imaging | Myotubular myopathy (MTM) | Calcium homeostasis | Myotubularin ( MTM1) gene | Myotubularin (MTM1) gene | Skeletal muscle ryanodine receptor (RYR1) gene | Dynamin 2 (DNM2) gene | X-INACTIVATION | MULTI-MINICORE DISEASE | myotubular myopathy (MTM) | MALIGNANT HYPERTHERMIA | calcium homeostasis | RODS | NEUROSCIENCES | muscle magnetic resonance imaging | CLINICAL NEUROLOGY | skeletal muscle ryanodine receptor (RYR1) gene | centronuclear myopathy (CNM) | MTM1 GENE | myotubularin (MTM1) gene | CONGENITAL MYOPATHY | AUTOSOMAL-DOMINANT | dynamin 2 (DNM2) gene | LINKED MYOTUBULAR MYOPATHY | CENTRAL CORE DISEASE | Myopathies, Structural, Congenital - physiopathology | Calcium - metabolism | Humans | Magnetic Resonance Imaging - methods | Serine - genetics | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Mutation, Missense | DNA Mutational Analysis - methods | Dose-Response Relationship, Drug | Ryanodine Receptor Calcium Release Channel - genetics | Muscle, Skeletal - drug effects | Muscle, Skeletal - physiopathology | Potassium Chloride - pharmacology | Adolescent | Myopathies, Structural, Congenital - pathology | Female | Muscle, Skeletal - pathology | Genes, Dominant - genetics | Leucine - genetics | Cresols - pharmacology | Gene mutations | Genetic research | Genetic aspects | Calcium | Ryanodine Receptor Calcium Release Channel | Serine | Biochemistry, Molecular Biology | Potassium Chloride | Leucine | Life Sciences | Magnetic Resonance Imaging | Myopathies, Structural, Congenital | Genes, Dominant | DNA Mutational Analysis | Cresols | Muscle, Skeletal | Molecular biology
Journal Article
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy,...
HMSNII | RYR1 | hereditary motor and sensory neuropathy type II | DI‐CMTB | ADCNM | DNM2 | MTM1 | centronuclear myopathy | CMT2M | CMTD1B | myotubular myopathy | BIN1 | endocytosis | Charcot–Marie–Tooth neuropathy | congenital myopathy | Hereditary motor and sensory neuropathy type II | Congenital myopathy | Di-CMTB | Endocytosis | Myotubular myopathy | Charcot-marie-tooth neuropathy | Centronuclear myopathy | DOMAIN | DNM2 MUTATION | NEONATAL ONSET | RYR1 MUTATIONS | GENETICS & HEREDITY | MICE | MARIE-TOOTH-DISEASE | ACTIN | AD-CNM | Charcot-Marie-Tooth neuropathy | SKELETAL-MUSCLE | DI-CMTB | GENE | MUSCLE INVOLVEMENT | Amino Acid Sequence | Sequence Alignment | Dynamin II - chemistry | Genes, Dominant | Genetic Association Studies | Humans | Dynamin II - genetics | Molecular Sequence Data | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | Mutation | Polymorphism, Genetic | Life Sciences | Biochemistry, Molecular Biology | Computer Science | Genetics | Molecular biology | Bioinformatics | Human genetics | chemistry | Dynamin II | Congenital | Genes | Structural | Genetic | diagnosis | Myopathies | Klinisk medicin | Clinical Medicine | genetics | Dominant | Polymorphism
HMSNII | RYR1 | hereditary motor and sensory neuropathy type II | DI‐CMTB | ADCNM | DNM2 | MTM1 | centronuclear myopathy | CMT2M | CMTD1B | myotubular myopathy | BIN1 | endocytosis | Charcot–Marie–Tooth neuropathy | congenital myopathy | Hereditary motor and sensory neuropathy type II | Congenital myopathy | Di-CMTB | Endocytosis | Myotubular myopathy | Charcot-marie-tooth neuropathy | Centronuclear myopathy | DOMAIN | DNM2 MUTATION | NEONATAL ONSET | RYR1 MUTATIONS | GENETICS & HEREDITY | MICE | MARIE-TOOTH-DISEASE | ACTIN | AD-CNM | Charcot-Marie-Tooth neuropathy | SKELETAL-MUSCLE | DI-CMTB | GENE | MUSCLE INVOLVEMENT | Amino Acid Sequence | Sequence Alignment | Dynamin II - chemistry | Genes, Dominant | Genetic Association Studies | Humans | Dynamin II - genetics | Molecular Sequence Data | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | Mutation | Polymorphism, Genetic | Life Sciences | Biochemistry, Molecular Biology | Computer Science | Genetics | Molecular biology | Bioinformatics | Human genetics | chemistry | Dynamin II | Congenital | Genes | Structural | Genetic | diagnosis | Myopathies | Klinisk medicin | Clinical Medicine | genetics | Dominant | Polymorphism
Journal Article
Human Mutation, ISSN 1059-7794, 05/2000, Volume 15, Issue 5, pp. 393 - 409
X‐linked myotubular myopathy (XLMTM; MIM# 310400) is a severe congenital muscle disorder caused by mutations in the MTM1 gene. This gene encodes a...
myotubularin | myotubular myopathy | diagnosis | XLMTM | phosphatase | MTM1 | congenital myopathy | Congenital myopathy | Myotubular myopathy | Diagnosis | Phosphatase | Myotubularin | GENOMIC ORGANIZATION | REGION | FAMILY | HETEROGENEITY | INACTIVATION | XQ28 | DNA | GENETICS & HEREDITY | DUCHENNE MUSCULAR-DYSTROPHY | CONTIGUOUS GENE SYNDROME | LINKAGE | Sequence Deletion | Multigene Family | Alternative Splicing | Humans | Middle Aged | Male | Myopathies, Structural, Congenital - genetics | Mutation, Missense | Protein Tyrosine Phosphatases, Non-Receptor | DNA Transposable Elements | Polymorphism, Genetic | Protein Tyrosine Phosphatases - genetics | Survival Analysis | X Chromosome | Female | Myopathies, Structural, Congenital - mortality | Mutation | X-linked myotubular myopathy | MTMR1 gene
myotubularin | myotubular myopathy | diagnosis | XLMTM | phosphatase | MTM1 | congenital myopathy | Congenital myopathy | Myotubular myopathy | Diagnosis | Phosphatase | Myotubularin | GENOMIC ORGANIZATION | REGION | FAMILY | HETEROGENEITY | INACTIVATION | XQ28 | DNA | GENETICS & HEREDITY | DUCHENNE MUSCULAR-DYSTROPHY | CONTIGUOUS GENE SYNDROME | LINKAGE | Sequence Deletion | Multigene Family | Alternative Splicing | Humans | Middle Aged | Male | Myopathies, Structural, Congenital - genetics | Mutation, Missense | Protein Tyrosine Phosphatases, Non-Receptor | DNA Transposable Elements | Polymorphism, Genetic | Protein Tyrosine Phosphatases - genetics | Survival Analysis | X Chromosome | Female | Myopathies, Structural, Congenital - mortality | Mutation | X-linked myotubular myopathy | MTMR1 gene
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 33, pp. 14697 - 14702
Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male...
Animal models | Necklaces | Phosphatases | Muscular diseases | Canines | Dogs | Muscles | Biopsies | Genetic mutation | Skeletal muscle | Congenital myopathy | Animal model | Canine myopathy | Myotubularin | Necklace fibers | myotubularin | CENTRONUCLEAR MYOPATHY | MULTIDISCIPLINARY SCIENCES | MUSCULAR-DYSTROPHY | PHENOTYPE | HOMOLOG | canine myopathy | necklace fibers | FAMILY | PHOSPHATASE MYOTUBULARIN | MUSCLE-FIBERS | DOGS | LIPID PHOSPHATASE | animal model | SURVIVORS | congenital myopathy | Haplotypes | Humans | Cercopithecus aethiops | Molecular Sequence Data | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - veterinary | Green Fluorescent Proteins - genetics | Dog Diseases - pathology | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Female | Genetic Diseases, X-Linked - genetics | Fluorescent Antibody Technique, Indirect | Amino Acid Sequence | Green Fluorescent Proteins - metabolism | Muscle, Skeletal - ultrastructure | Dog Diseases - genetics | Genotype | Microscopy, Electron | Mice, Knockout | Sequence Homology, Amino Acid | Animals | Pedigree | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Myopathies, Structural, Congenital - pathology | Genetic Diseases, X-Linked - pathology | Mice | Muscle, Skeletal - pathology | Mutation | COS Cells | Muscle diseases | Genetic aspects | Gene mutations | Properties | Identification and classification | Microtubules | MTM1 gene | Myotubes | Exons | Fetuses | X chromosome | proteasomes | Tubules | Data processing | Nuclei | Atrophy | Mitochondria | Biopsy | Protein folding | Age | Myopathy | Life Sciences | Genetics | Biological Sciences
Animal models | Necklaces | Phosphatases | Muscular diseases | Canines | Dogs | Muscles | Biopsies | Genetic mutation | Skeletal muscle | Congenital myopathy | Animal model | Canine myopathy | Myotubularin | Necklace fibers | myotubularin | CENTRONUCLEAR MYOPATHY | MULTIDISCIPLINARY SCIENCES | MUSCULAR-DYSTROPHY | PHENOTYPE | HOMOLOG | canine myopathy | necklace fibers | FAMILY | PHOSPHATASE MYOTUBULARIN | MUSCLE-FIBERS | DOGS | LIPID PHOSPHATASE | animal model | SURVIVORS | congenital myopathy | Haplotypes | Humans | Cercopithecus aethiops | Molecular Sequence Data | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - veterinary | Green Fluorescent Proteins - genetics | Dog Diseases - pathology | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Female | Genetic Diseases, X-Linked - genetics | Fluorescent Antibody Technique, Indirect | Amino Acid Sequence | Green Fluorescent Proteins - metabolism | Muscle, Skeletal - ultrastructure | Dog Diseases - genetics | Genotype | Microscopy, Electron | Mice, Knockout | Sequence Homology, Amino Acid | Animals | Pedigree | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Myopathies, Structural, Congenital - pathology | Genetic Diseases, X-Linked - pathology | Mice | Muscle, Skeletal - pathology | Mutation | COS Cells | Muscle diseases | Genetic aspects | Gene mutations | Properties | Identification and classification | Microtubules | MTM1 gene | Myotubes | Exons | Fetuses | X chromosome | proteasomes | Tubules | Data processing | Nuclei | Atrophy | Mitochondria | Biopsy | Protein folding | Age | Myopathy | Life Sciences | Genetics | Biological Sciences
Journal Article
Journal of Neuromuscular Diseases, ISSN 2214-3599, 2018, Volume 5, Issue 2, pp. 257 - 260
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive...
SPEG | myotubularin | Centronuclear myopathy | myotubular myopathy | congenital myopathy | MTM1 | Phenotypes | Dilated cardiomyopathy | Cardiomyopathy | Protein kinase | Mutation | Kinases | Nuclei | Skeletal muscle | Myopathy
SPEG | myotubularin | Centronuclear myopathy | myotubular myopathy | congenital myopathy | MTM1 | Phenotypes | Dilated cardiomyopathy | Cardiomyopathy | Protein kinase | Mutation | Kinases | Nuclei | Skeletal muscle | Myopathy
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 10/2008, Volume 159, Issue 4, pp. 453 - 458
Objective: Mutations in chromosome X open reading frame 6 (CXorf6). a recently described candidate gene involved in the development of male genitalia, have...
XQ28 | ENDOCRINOLOGY & METABOLISM | BOYS | RESISTANCE | CONTIGUOUS GENE SYNDROME | LINKED MYOTUBULAR MYOPATHY | MALE HYPOGENITALISM | GENITALIA | ANDROGEN RECEPTOR GENE | MTM1 | DELETION | Protein Structure, Tertiary | Severity of Illness Index | Transcription Factors - chemistry | Humans | Child, Preschool | Hypospadias - genetics | Infant | Male | Mutation, Missense | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nuclear Proteins - chemistry | DNA-Binding Proteins - chemistry | Hypospadias - epidemiology | Incidence | Phenotype | Pedigree | Gene Deletion | Genetic Predisposition to Disease - epidemiology | Nuclear Proteins - genetics | Child | Hypospadias - pathology | Infant, Newborn
XQ28 | ENDOCRINOLOGY & METABOLISM | BOYS | RESISTANCE | CONTIGUOUS GENE SYNDROME | LINKED MYOTUBULAR MYOPATHY | MALE HYPOGENITALISM | GENITALIA | ANDROGEN RECEPTOR GENE | MTM1 | DELETION | Protein Structure, Tertiary | Severity of Illness Index | Transcription Factors - chemistry | Humans | Child, Preschool | Hypospadias - genetics | Infant | Male | Mutation, Missense | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nuclear Proteins - chemistry | DNA-Binding Proteins - chemistry | Hypospadias - epidemiology | Incidence | Phenotype | Pedigree | Gene Deletion | Genetic Predisposition to Disease - epidemiology | Nuclear Proteins - genetics | Child | Hypospadias - pathology | Infant, Newborn
Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 09/2018, Volume 6, Issue 1, pp. 93 - 3
Congenital myopathy | Centronuclear myopathy | Hypotonia | DNM2 | MTM1 | DOMINANT CENTRONUCLEAR MYOPATHY | DYNAMIN 2 | NEUROSCIENCES | Phenotype | Humans | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Myopathies, Structural, Congenital - pathology | Dynamins - genetics | Models, Molecular | Female | Infant | Male | Myopathies, Structural, Congenital - genetics | Muscle, Skeletal - pathology | Mutation - genetics | Genetic aspects | Genetic disorders
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2010, Volume 20, Issue 6, pp. 375 - 381
Abstract X-linked centronuclear myopathy (XLMTM), also called myotubular myopathy, is a severe congenital myopathy characterized by generalized hypotonia and...
Neurology | Myotubular myopathy | XLMTM | Centronuclear myopathy | Intronic mutations | Myotubularin | MTM1 | MTM1 GENE-MUTATIONS | PHENOTYPE | DYNAMIN-2 | DOMINANT | NEUROSCIENCES | CLINICAL NEUROLOGY | DELETION | FAMILY | INACTIVATION | PHOSPHATASE MYOTUBULARIN | FIBERS | MTM 1 | LIPID PHOSPHATASE | Introns - genetics | Genes, X-Linked - genetics | Humans | RNA, Messenger - genetics | Cells, Cultured | Molecular Sequence Data | Exons - genetics | Myopathies, Structural, Congenital - genetics | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | DNA - genetics | Mutation - physiology | RNA, Messenger - biosynthesis | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Myopathies, Structural, Congenital - diagnosis
Neurology | Myotubular myopathy | XLMTM | Centronuclear myopathy | Intronic mutations | Myotubularin | MTM1 | MTM1 GENE-MUTATIONS | PHENOTYPE | DYNAMIN-2 | DOMINANT | NEUROSCIENCES | CLINICAL NEUROLOGY | DELETION | FAMILY | INACTIVATION | PHOSPHATASE MYOTUBULARIN | FIBERS | MTM 1 | LIPID PHOSPHATASE | Introns - genetics | Genes, X-Linked - genetics | Humans | RNA, Messenger - genetics | Cells, Cultured | Molecular Sequence Data | Exons - genetics | Myopathies, Structural, Congenital - genetics | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | DNA - genetics | Mutation - physiology | RNA, Messenger - biosynthesis | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Myopathies, Structural, Congenital - diagnosis
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2016, Volume 89, Issue 1, pp. 93 - 98
X‐linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder defined by severe hypotonia, respiratory failure and histopathologic changes in...
XLMTM | MLPA | prenatal diagnosis | MTM1 variants | Prenatal diagnosis | FORMS | GENETICS & HEREDITY | LINKED MYOTUBULAR MYOPATHY | CENTRONUCLEAR MYOPATHIES | Amino Acid Sequence | Genetic Testing | Humans | Prenatal Diagnosis | Molecular Sequence Data | Genotype | Infant | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Pregnancy | Protein Tyrosine Phosphatases, Non-Receptor - chemistry | Sequence Alignment | Biopsy | DNA Mutational Analysis | Pedigree | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Alleles | Female | Heterozygote | Myopathies, Structural, Congenital - diagnosis | Muscle, Skeletal - pathology | Mutation | Infant, Newborn | Genetic research | Genetic aspects | Pregnant women | Analysis | Genetic counseling | Genetic disorders | Genetic testing | MTM1 gene | Genotyping | Splicing | Clonal deletion | Coding | Genetic analysis | Diagnosis | Myopathy
XLMTM | MLPA | prenatal diagnosis | MTM1 variants | Prenatal diagnosis | FORMS | GENETICS & HEREDITY | LINKED MYOTUBULAR MYOPATHY | CENTRONUCLEAR MYOPATHIES | Amino Acid Sequence | Genetic Testing | Humans | Prenatal Diagnosis | Molecular Sequence Data | Genotype | Infant | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Pregnancy | Protein Tyrosine Phosphatases, Non-Receptor - chemistry | Sequence Alignment | Biopsy | DNA Mutational Analysis | Pedigree | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Alleles | Female | Heterozygote | Myopathies, Structural, Congenital - diagnosis | Muscle, Skeletal - pathology | Mutation | Infant, Newborn | Genetic research | Genetic aspects | Pregnant women | Analysis | Genetic counseling | Genetic disorders | Genetic testing | MTM1 gene | Genotyping | Splicing | Clonal deletion | Coding | Genetic analysis | Diagnosis | Myopathy
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 11/2018, Volume 28, Issue 11, pp. 952 - 955
X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the gene. Female carriers are believed to be usually...
Genetics | Neuromuscular | X-linked myotubular myopathy | Cardiomyopathy | MTM1 | LINKED MYOTUBULAR MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic aspects | Pulmonary function tests | Genetic disorders | Respiratory insufficiency | Heart diseases
Genetics | Neuromuscular | X-linked myotubular myopathy | Cardiomyopathy | MTM1 | LINKED MYOTUBULAR MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic aspects | Pulmonary function tests | Genetic disorders | Respiratory insufficiency | Heart diseases
Journal Article
Human Mutation, ISSN 1059-7794, 02/2002, Volume 19, Issue 2, pp. 114 - 121
X‐linked myotubular myopathy (MTM1) is a rare developmental disorder of skeletal muscle that is characterized by the presence of abnormal central nuclei in...
myotubularin | North American | myopathy | MTM | XLMTM | phosphatase | myotubular myopathy, X‐linked | MTM1 | Myotubular myopathy | X-linked | Phosphatase | Myopathy | Myotubularin | DIAGNOSIS | DOMAIN | myotubular myopathy, X-linked | MTM I | FAMILY | FORMS | YEAST | MTM1 GENE | PHOSPHATIDYLINOSITOL 3-PHOSPHATE | GENETICS & HEREDITY | MOSAICISM | Myopathies, Structural, Congenital - physiopathology | United States | Humans | Myopathies, Structural, Congenital - congenital | Child, Preschool | Molecular Sequence Data | Infant | Male | Myopathies, Structural, Congenital - genetics | Genetic Counseling | Protein Tyrosine Phosphatases - genetics | DNA Mutational Analysis | Female | Genetic Linkage - genetics | Child | X Chromosome - genetics | Introns - genetics | Exons - genetics | Mutation - genetics | Protein Tyrosine Phosphatases, Non-Receptor | Reverse Transcriptase Polymerase Chain Reaction | Phenotype | Adolescent | Heterozygote | Polymorphism, Genetic - genetics
myotubularin | North American | myopathy | MTM | XLMTM | phosphatase | myotubular myopathy, X‐linked | MTM1 | Myotubular myopathy | X-linked | Phosphatase | Myopathy | Myotubularin | DIAGNOSIS | DOMAIN | myotubular myopathy, X-linked | MTM I | FAMILY | FORMS | YEAST | MTM1 GENE | PHOSPHATIDYLINOSITOL 3-PHOSPHATE | GENETICS & HEREDITY | MOSAICISM | Myopathies, Structural, Congenital - physiopathology | United States | Humans | Myopathies, Structural, Congenital - congenital | Child, Preschool | Molecular Sequence Data | Infant | Male | Myopathies, Structural, Congenital - genetics | Genetic Counseling | Protein Tyrosine Phosphatases - genetics | DNA Mutational Analysis | Female | Genetic Linkage - genetics | Child | X Chromosome - genetics | Introns - genetics | Exons - genetics | Mutation - genetics | Protein Tyrosine Phosphatases, Non-Receptor | Reverse Transcriptase Polymerase Chain Reaction | Phenotype | Adolescent | Heterozygote | Polymorphism, Genetic - genetics
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2018, Volume 28, Issue 4, pp. 339 - 345
We report the case of a 58-year-old woman with a progressive and seemingly sporadic myopathy who, later through whole exome sequencing, was diagnosed as a...
Centronuclear myopathies | Manifesting female carriers | Congenital myopathies | Necklace fibers | MTM1 | Medical colleges | Gene mutations | Genes | Patient outcomes | Jewelry | Genetic aspects | Infants
Centronuclear myopathies | Manifesting female carriers | Congenital myopathies | Necklace fibers | MTM1 | Medical colleges | Gene mutations | Genes | Patient outcomes | Jewelry | Genetic aspects | Infants
Journal Article