Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy

Acta Myologica

Volumn 30, Issue OCTOBER, 2011, Pages 121-126

  Vattemi, Gaetano ^a   Neri, M ^b   Piffer, S ^a   Vicart, P ^c   Gualandi, F ^b   Marini, M ^a   Guglielmi, V ^a   Filosto, M ^d   Tonin, P ^a   Ferlini, A ^b   Tomelleri, G ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

^c Groupe Hospitalier Pitié Salpêtrière   (France)

^d SPEDALI CIVILI   (Italy)

Author keywords

B crystallin; Desmin; Filamin C; Myofibrillar myopathies; Myotilin; Z band alternatively spliced PDZ motif containing protein (ZASP); Z disk

Indexed keywords

ADENOSINE TRIPHOSPHATASE; DESMIN; OXIDOREDUCTASE;

ARTICLE; CLINICAL ARTICLE; ELECTRON MICROSCOPY; ENZYME ACTIVITY; GENE MUTATION; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; JUVENILE; MICROSCOPY; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE CELL; MUSCLE FIBRIL; MUSCLE WEAKNESS; MYOFILAMENT; MYOPATHY; NEUROMUSCULAR DISEASE; PERIPHERAL NEUROPATHY; PROTEIN EXPRESSION;

AGE OF ONSET; COHORT STUDIES; CONTRACTILE PROTEINS; CYTOSKELETAL PROTEINS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HEART DISEASES; HUMANS; IMMUNOHISTOCHEMISTRY; INHERITANCE PATTERNS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULAR DYSTROPHIES; MUTATION; MYOFIBRILS; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 81455148184     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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