Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

Neuromuscular Disorders

Volumn 21, Issue 8, 2011, Pages 556-562

  Lehtokari, Vilma Lotta ^a   Pelin, Katarina ^b   Herczegfalvi, Agnes ^c   Karcagi, Veronika ^d   Pouget, Jean ^e   Franques, Jerôme ^e   Pellissier, Jean François ^e   Figarella Branger, Dominique ^e   von der Hagen, Maja ^f   Huebner, Angela ^f   Schoser, Benedikt ^g   Lochmüller, Hanns ^h   Wallgren Pettersson, Carina ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c Pal Heim Children's Hospital   (Hungary)

^d NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH   (Hungary)

^e TIMONE HOSPITAL   (France)

^f DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Distal myopathy; Mutations; Nebulin; Nemaline myopathy

Indexed keywords

CREATINE KINASE; NEBULIN;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL EVALUATION; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DISTAL MYOPATHY; ELECTROMYOGRAPHY; FEMALE; FOLLOW UP; GENE; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HISTOLOGY; HUMAN; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEBULIN GENE; NEMALINE MYOPATHY; NERVE CONDUCTION; ONSET AGE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; BIOPSY; CHILD; DIAGNOSIS, DIFFERENTIAL; DISTAL MYOPATHIES; FEMALE; FRANCE; HUMANS; HUNGARY; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE;

EID: 79960909613     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.05.012     Document Type: Article

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