Mutations in myotilin cause myofibrillar myopathy

Neurology

Volumn 62, Issue 8, 2004, Pages 1363-1371

  Selcen, Duygu ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUSCLE PROTEIN; MYOTILIN; SERINE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; PROTEIN ANALYSIS; ULTRASTRUCTURE;

EID: 1942473823     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000123576.74801.75     Document Type: Article

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