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Neuromuscular Disorders, ISSN 0960-8966, 06/2018, Volume 28, Issue 6, pp. 521 - 531
Missense mutations in the four and a half LIM domain 1 ( ) gene were found to cause X-linked inherited myopathies of both skeletal and heart muscles. However,... 
Loss of function | Zebrafish | FHL1-opathy | FHL1 | Myopathy | CONTRACTILITY | MUSCLE LIM PROTEIN | DILATED CARDIOMYOPATHY | DISTINCT HUMAN MYOPATHIES | NEUROSCIENCES | CLINICAL NEUROLOGY | CAUSE GAIN | HYPERTROPHIC CARDIOMYOPATHY | DOMAIN 1 GENE | IN-VIVO | MYOFIBRILLAR | REDUCING BODY MYOPATHY
Journal Article
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2010, Volume 296, Issue 1, pp. 22 - 29
Abstract An X-linked myopathy was recently associated with mutations in the four-and-a-half-LIM domains 1 ( FHL1 ) gene. We identified a family with late... 
Neurology | X-linked myopathy | Scapuloperoneal | Neurogenetics | Muscular dystrophy | FHL1 | Genetic diagnosis | ELECTROSTATIC ENERGIES | DOMINANT | BINDING PROTEIN | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | REDUCING BODY MYOPATHY | Immunohistochemistry | Homeodomain Proteins - metabolism | Humans | Middle Aged | Child, Preschool | Infant | Male | Muscle, Skeletal - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Mutation, Missense - genetics | Young Adult | Muscular Atrophy, Spinal - genetics | Mutation - physiology | Gait Disorders, Neurologic - physiopathology | Muscle Proteins - metabolism | Gait Disorders, Neurologic - pathology | Adult | Female | Genetic Diseases, X-Linked - genetics | Genetic Linkage - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Muscular Atrophy, Spinal - physiopathology | Genetic Diseases, X-Linked - physiopathology | LIM Domain Proteins | Models, Molecular | Exons - genetics | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Muscular Atrophy, Spinal - pathology | Homeodomain Proteins - genetics | Muscle Proteins - genetics | Phenotype | Pedigree | Adolescent | Genetic Diseases, X-Linked - pathology | Polymorphism, Single Nucleotide - genetics | LIM-Homeodomain Proteins | Protein Conformation | Aged | Transcription Factors | Ubiquitin | Family | Genetic aspects | Protein binding | Index Medicus | muscular dystrophy | genetic diagnosis | neurogenetics | scapuloperoneal
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 171 - 176
Journal Article
Clinical Neurology and Neurosurgery, ISSN 0303-8467, 05/2019, Volume 180, pp. 48 - 51
Journal Article
Journal Article
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 10/2012, Volume 5, Issue 5, pp. 490 - 502
Journal Article
Frontiers in Aging Neuroscience, ISSN 1663-4365, 2014, Volume 6, pp. 215 - 215
The four-and-half LIM domain protein 1 (FHL1) is highly expressed in skeletal and cardiac muscle. Mutations of the FHL1 gene have been associated with diverse... 
protein aggregates | autophagy | FHL1 | Myopathy | sarcopenia | Sarcopenia | Autophagy | muopathy
Journal Article
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 12/2013, Volume 6, Issue 6, pp. 543 - 551
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2011, Volume 19, Issue 10, pp. 1038 - 1044
Journal Article
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