A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)

Journal of Neurology

Volumn 258, Issue 8, 2011, Pages 1437-1444

  Reilich, Peter ^a   Krause, Sabine ^a   Schramm, Nicolai ^b   Klutzny, Ursula ^a   Bulst, Stefanie ^a   Zehetmayer, Barbara ^a   Schneiderat, Peter ^a   Walter, Maggie C ^a   Schoser, Benedikt ^a   Lochmüller, Hanns ^c  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

LGMD1A; Myofibrillar myopathy; MYOT; Myotilin; Phenotype

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 1A; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOFIBRILLAR MYOPATHY; MYOPATHY; MYOTILIN GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESPIRATORY FAILURE; WALKING DIFFICULTY;

ADULT; CYTOSKELETAL PROTEINS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 79961028072     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-5953-9     Document Type: Article

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