Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

Journal of Neurology

Volumn 257, Issue 7, 2010, Pages 1108-1118

  Reilich, Peter ^a   Schramm, Nicolai ^b   Schoser, Benedikt ^a   Schneiderat, Peter ^a   Strigl Pill, Nicola ^a   Müller Höcker, Josef ^b   Kress, Wolfram ^c   Ferbert, Andreas ^d   Rudnik Schöneborn, Sabine ^e   Noth, Johannes ^f   Lochmüller, Hanns ^g   Weis, Joachim ^e   Walter, Maggie C ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d KLINIKUM KASSEL   (Germany)

^e RWTH AACHEN UNIVERSITY   (Germany)

^f UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Facioscapulohumeral muscular dystrophy; Filamentous inclusions; Phenotype; Rimmed vacuoles; Vacuolar myopathy

Indexed keywords

ADULT; AGED; ARTICLE; CELL INCLUSION; CELL VACUOLE; CHROMOSOME 4; CHROMOSOME 4Q; CLINICAL ARTICLE; DIFFERENTIAL DIAGNOSIS; DISTAL MYOPATHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; HUMAN; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; VACUOLAR MYOPATHY;

ADULT; AGED; CHROMOSOMES, HUMAN, PAIR 4; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; LEG; MALE; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; MUTATION; PHENOTYPE; VACUOLES;

EID: 77954384942     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-010-5471-1     Document Type: Article

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