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Review Article - Protein aggregate myopathies, 12/2005
Protein aggregate myopathies (PAM) are an emerging group of muscle diseases characterized by structural abnormalities. Protein aggregate myopathies are marked... 
congenital myopathies | actin | myosin | desmin | aggregation of proteins | inclusion body myopathies
Journal
Journal Article
Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 915 - 926
ABSTRACT The GNE gene encodes the rate‐limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate‐N‐acetylglucosamine... 
distal myopathy with rimmed vacuoles | hereditary inclusion body myopathy | DMRV | HIBM | adult onset muscular dystrophy | GNE | Adult onset muscular dystrophy | Hereditary inclusion body myopathy | Distal myopathy with rimmed vacuoles | RIMMED VACUOLES DMRV | BIFUNCTIONAL ENZYME | GLCNAC 2-EPIMERASE/MANNAC KINASE | DISTAL MYOPATHY | INCLUSION-BODY MYOPATHY | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | SIALIC-ACID BIOSYNTHESIS | GENETICS & HEREDITY | KEY ENZYME | HETEROZYGOUS MUTATIONS | N-ACETYLNEURAMINIC ACID | Gene Expression | Exons | Introns | Distal Myopathies - pathology | Gene Frequency | Humans | Sialic Acids - metabolism | Databases, Genetic | European Continental Ancestry Group | Muscle, Skeletal - metabolism | Multienzyme Complexes - genetics | Genetic Heterogeneity | Multienzyme Complexes - chemistry | Exome | Asian Continental Ancestry Group | Distal Myopathies - genetics | Distal Myopathies - physiopathology | Muscle, Skeletal - physiopathology | Alleles | Muscle, Skeletal - pathology | Mutation | Distal Myopathies - ethnology | Enzymes | Analysis | Genes | Genomics | Therapeutics | Physiological aspects | Genetic aspects | Population genetics | Organic acids | Homeopathy | Materia medica and therapeutics | Kinases | GNE myopathy | N-acetylmannosamine (ManNAc) | sialic acid | hereditary inclusion body myopathy (HIBM) | disease prevalence | distal myopathy with rimmed vacuoles (DMRV)
Journal Article
Journal Article
Neuropathology and Applied Neurobiology, ISSN 0305-1846, 02/2017, Volume 43, Issue 1, pp. 62 - 81
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2016, Volume 87, Issue 10, pp. 1038 - 1044
ObjectiveTo elucidate the common and distinct clinical features of immune-mediated necrotising myopathy (IMNM), also known as necrotising autoimmune myopathy... 
AUTOANTIBODIES | SURGERY | INFLAMMATORY MYOPATHY | DISEASES | PSYCHIATRY | POLYMYOSITIS | ANTI-3-HYDROXY-3-METHYLGLUTARYL-COENZYME | RECOGNITION PARTICLE ANTIBODIES | REDUCTASE | MYOSITIS | CLINICAL NEUROLOGY | Autoantibodies - blood | Humans | Middle Aged | Myositis, Inclusion Body - immunology | Child, Preschool | Male | Urocortins - immunology | Myositis - immunology | Myositis - therapy | Necrosis | Young Adult | Myositis, Inclusion Body - diagnosis | Muscle, Skeletal - immunology | Immunotherapy | Muscle, Skeletal - drug effects | Aged, 80 and over | Myositis, Inclusion Body - pathology | Adult | Female | Myositis - pathology | Autoimmune Diseases - pathology | Child | Hydroxymethylglutaryl CoA Reductases - immunology | Diagnosis, Differential | Creatine Kinase - blood | Autoimmune Diseases - immunology | Myositis, Inclusion Body - therapy | Corticotropin-Releasing Hormone - immunology | Autoimmune Diseases - diagnosis | Myositis - diagnosis | Sex Ratio | Neurologic Examination | Adolescent | Autoimmune Diseases - therapy | Aged | Muscle, Skeletal - pathology | Muscle diseases | Prognosis | Autoantibodies | Research | Analysis | Medical research | Immunoglobulins | Neuromuscular diseases | Dehydrogenases | Disease | Rheumatology | Histology | Arthritis | Phosphatase | Patients | Musculoskeletal system | Neurology | Biopsy | Skin
Journal Article