Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, αB-crystallin, myotilin, LMNA or SEPN1 genes

Neuromuscular Disorders

Volumn 16, Issue 11, 2006, Pages 759-762

  Kostera Pruszczyk, Anna ^a   Goudeau, Bertrand ^b   Ferreiro, Ana ^c   Richard, Pascal ^c   Simon, Stéphanie ^b   Vicart, Patrick ^b   Fidzianska, Anna ^d  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

Cataract; Congenital myopathy; Desmin; Myofibrillar myopathy; Polydactyly

Indexed keywords

CRYSTALLIN; DESMIN; DYSTROPHIN; LAMIN A; LAMIN C; MYOTILIN; PROTEIN; SELENOPROTEIN N; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL CATARACT; DISEASE ASSOCIATION; EXON; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; IMMUNOREACTIVITY; MALE; MUTATIONAL ANALYSIS; MYOPATHY; POLAND SYNDROME; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON MALFORMATION; STAINING;

ALPHA-CRYSTALLIN B CHAIN; CATARACT; CHILD; CYTOSKELETAL PROTEINS; DESMIN; HUMANS; LAMIN TYPE A; MALE; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; MYOFIBRILS; MYOPATHIES, STRUCTURAL, CONGENITAL; PHENOTYPE; POLYDACTYLY; SELENOPROTEINS; SYNDACTYLY;

EID: 33751059033     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.07.025     Document Type: Article

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