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Journal Article
HUMAN MUTATION, ISSN 1059-7794, 07/2014, Volume 35, Issue 7, pp. 868 - 879
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/-cardiac myosin heavy chain encoded by the gene MYH7, as... 
Laing distal myopathy | FIBER-TYPE DISPROPORTION | HEAVY-CHAIN | MPD1 | SEQUENCE VARIATION | CARDIOMYOPATHY | DISEASE | GENETICS & HEREDITY | STORAGE MYOPATHY | MISSENSE MUTATIONS | MYH7 | Myosin | Muscles | Boycotts | Family | Genetic aspects | Muscle proteins | Muscular dystrophy | Musculoskeletal system | Mutation | Scoliosis | Cardiomyopathy
Journal Article
Current Neurology and Neuroscience Reports, ISSN 1528-4042, 2/2011, Volume 11, Issue 1, pp. 97 - 103
Lipid storage myopathy (LSM) is pathologically characterized by prominent lipid accumulation in muscle fibers due to lipid dysmetabolism. Although extensive... 
Neurology | Multiple acyl-coenzyme A dehydrogenase deficiency | Medicine & Public Health | Primary carnitine deficiency | Lipid storage myopathy | Neutrolipid storage disease | ADIPOSE TRIGLYCERIDE LIPASE | GENOTYPE | CARDIOMYOPATHY | PHENOTYPE | MOLECULAR ASPECTS | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | DISEASE | COA DEHYDROGENATION DEFICIENCY | ETFDH MUTATIONS | Lipid Metabolism, Inborn Errors - genetics | Skin Diseases - genetics | Humans | Ichthyosiform Erythroderma, Congenital - pathology | Skin Diseases - pathology | Carnitine - deficiency | Lipid Metabolism, Inborn Errors - pathology | Muscular Diseases - physiopathology | Skin Diseases - physiopathology | Carnitine - genetics | Ichthyosiform Erythroderma, Congenital - physiopathology | Acyl-CoA Dehydrogenase - genetics | Diagnosis, Differential | Lipid Metabolism | Muscular Diseases - pathology | Lipid Metabolism, Inborn Errors - physiopathology | Lipid Metabolism, Inborn Errors - therapy | Acyl-CoA Dehydrogenase - deficiency | Muscle, Skeletal - physiopathology | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Skin Diseases - enzymology | Muscular Diseases - therapy | Ichthyosiform Erythroderma, Congenital - genetics | Ichthyosiform Erythroderma, Congenital - therapy | Usage | Gene mutations | Muscle diseases | Genetic aspects | Research | Health aspects | Genetic screening | Risk factors
Journal Article
JOURNAL OF CLINICAL MEDICINE, ISSN 2077-0383, 12/2018, Volume 7, Issue 12, p. 472
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 04/2015, Volume 1852, Issue 4, pp. 615 - 621
Journal Article
Current Opinion in Rheumatology, ISSN 1040-8711, 11/2008, Volume 20, Issue 6, pp. 648 - 655
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2018, Volume 28, Issue 4, pp. 346 - 349
An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next... 
Limb girdle muscle weakness | Progressive muscle weakness | Glycogen storage disease | Polyglucosan body myopathy | Muscles | Youth | Teenagers
Journal Article