Filamin C-related myopathies: Pathology and mechanisms

Acta Neuropathologica

Volumn 125, Issue 1, 2013, Pages 33-46

  Fürst, Dieter O ^a   Goldfarb, Lev G ^b   Kley, Rudolf A ^c   Vorgerd, Matthias ^c   Olivé, Montse ^d   Van Der Ven, Peter F M ^a  

^a UNIVERSITY OF BONN   (Germany)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c RUHR UNIVERSITY BOCHUM   (Germany)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

Distal myopathy; Filamin C; Filaminopathy; Limb girdle muscular dystrophy; Myofibrillar myopathy; Pathomechanism

Indexed keywords

CREATINE KINASE; DESMIN; FILAMIN; FILAMIN C; UNCLASSIFIED DRUG;

CLINICAL FEATURE; COMPARATIVE STUDY; DISEASE ASSOCIATION; DISTAL FILAMIN C MYOPATHY; FILAMIN C GENE; FILAMINOPATHY; FRAMESHIFT MUTATION; GENE; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HUMAN; MISSENSE MUTATION; MOLECULAR DIAGNOSTICS; MOLECULAR PATHOLOGY; MUSCLE BIOPSY; MUSCLE EXAMINATION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOFIBRILLAR TYPE FILAMIN C MYOPATHY; MYOPATHY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN MODIFICATION; PSEUDOGENE; REVIEW;

ANIMALS; CONTRACTILE PROTEINS; HUMANS; MICROFILAMENT PROTEINS; MUSCULAR DISEASES; MUTATION; PHENOTYPE;

EID: 84872284023     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-1054-9     Document Type: Review

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