Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy [10]

European Journal of Neurology

Volumn 14, Issue 9, 2007, Pages

  Motozaki, Y ^a   Komai, K ^a   Hirohata, M ^a   Asaka, T ^b   Ono, K ^a   Yamada, M ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b National Hospital Organization Nanao Hospital   (Japan)

Author keywords

GNE mutation; Hereditary inclusion body myopathy; Necrotizing myopathy; Proximal weakness; Rimmed vacuole

Indexed keywords

CYCLOPHOSPHAMIDE; CYCLOSPORIN; GENE PRODUCT; GENOMIC DNA; METHYLPREDNISOLONE; N ACETYLMANNOSAMINE KINASE; PREDNISOLONE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; BLOOD SAMPLING; CASE REPORT; CHROMOSOME 9P; DISEASE ASSOCIATION; DRUG PULSE THERAPY; GENE MUTATION; HUMAN; ILIOPSOAS MUSCLE; IMMUNOHISTOCHEMISTRY; LETTER; LIMB WEAKNESS; MALE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE CRAMP; MUSCLE NECROSIS; MUSCLE WEAKNESS; MYOPATHY; PRIORITY JOURNAL;

ADULT; CREATINE KINASE; GENETIC PREDISPOSITION TO DISEASE; HISTIDINE; HUMANS; LEG; MALE; MULTIENZYME COMPLEXES; MUTATION; MYELITIS, TRANSVERSE; MYOSITIS, INCLUSION BODY; PROLINE;

EID: 34548119927     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01905.x     Document Type: Letter

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