Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations

Neuromuscular Disorders

Volumn 13, Issue 3, 2003, Pages 252-258

  Dalakas, Marinos C ^a   Dagvadorj, Ayush ^a   Goudeau, Bertrand ^b   Park, Kye Yoon ^a   Takeda, Kazuyo ^c   Simon Casteras, Monique ^b   Vasconcelos, Olavo ^a   Sambuughin, Nyamkhishig ^d   Shatunov, Alexey ^a   Nagle, James W ^a   Sivakumar, Kumaraswamy ^d   Vicart, Patrick ^b   Goldfarb, Lev G ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^d BARROW NEUROLOGICAL INSTITUTE   (United States)

Author keywords

Cardiomyopathy; Desmin gene mutation; Desmin related myopathy; Desminopathy; Distal myopathy; Myofibrillar myopathy

Indexed keywords

DESMIN; MUTANT PROTEIN;

ALLELE; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DESMIN MYOPATHY; DISEASE ASSOCIATION; DISEASE COURSE; FAMILY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MYOPATHY; PHENOTYPIC VARIATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0037374064     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0960-8966(02)00271-7     Document Type: Article

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