Myosinopathies: Pathology and mechanisms

Acta Neuropathologica

Volumn 125, Issue 1, 2013, Pages 3-18

  Tajsharghi, Homa ^a   Oldfors, Anders ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

Laing distal myopathy; Mutation; Myopathy; Myosin; Myosin heavy chain; Myosin storage myopathy; Protein aggregate

Indexed keywords

EMBRYONIC MYOSIN HEAVY CHAIN; FETAL MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 3; MYOSIN HEAVY CHAIN 7; MYOSIN HEAVY CHAIN 8; MYOSIN HEAVY CHAIN BETA; MYOSIN HEAVY CHAIN I; MYOSIN HEAVY CHAIN IIA; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT MYOPATHY WITH CONGENITAL JOINT CONTRACTURE OPHTHALMOPLEGIA AND RIMMED VACUOLE; AUTOSOMAL RECESSIVE MYOPATHY WITH OPHTHALMOPLEGIA; CLINICAL FEATURE; DISEASE ASSOCIATION; DISTAL ARTHROGRYPOSIS SYNDROME; DOMINANT MYOSIN IIA MYOPATHY; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FREEMAN SHELDON SYNDROME; GENE; GENETIC ASSOCIATION; HUMAN; LAING EARLY ONSET DISTAL MYOPATHY; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MYOPATHY; MYOSIN HEAVY CHAIN 2 GENE; MYOSIN HEAVY CHAIN 3 GENE; MYOSIN HEAVY CHAIN 7 GENE; MYOSIN HEAVY CHAIN 8 GENE; MYOSIN STORAGE MYOPATHY; NONHUMAN; NULL ALLELE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN ASSEMBLY; PROTEIN DEGRADATION; PROTEIN UNFOLDING; REVIEW; SCAPULOPERONEAL AND LIMB GIRDLE SYNDROME; TRISMUS AND PSEUDOCAMTODACTYLY SYNDROME;

ANIMALS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUSCULAR DISEASES; MUTATION; MYOSIN HEAVY CHAINS;

EID: 84872316386     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-1024-2     Document Type: Review

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