Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family

Neuromuscular Disorders

Volumn 20, Issue 5, 2010, Pages 335-336

  Stober, Andrea ^a   Aleo, Angelo ^b   Kuhl, Valerio ^a   Bornemann, Antje ^c   Walter, Maggie C ^b   Lochmüller, Hanns ^d   Lindner, Alfred ^a   Krause, Sabine ^b  

^a MARIENHOSPITAL STUTTGART   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

DMRV; GNE; Hereditary inclusion body myopathy; HIBM; UDP N acetyl glucosamine 2 epimerase N acetylmannosamine kinase

Indexed keywords

CREATINE KINASE; MEMBRANE PROTEIN; N ACETYLMANNOSAMINE KINASE; PROLINE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; ARTICLE; CASE REPORT; CELL VACUOLE; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DISTAL MYOPATHY; ELECTROMYOGRAPHY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INCLUSION BODY MYOPATHY; MISSENSE MUTATION; MUSCLE BIOPSY; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

EID: 77952010903     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.02.013     Document Type: Article

References (6)

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2. Nishino I., Noguchi S., Murayama K., et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 2002, 59:1689-1693.
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6. Sparks S.E., Ciccone C., Lalor M., et al. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. Glycobiology 2005, 15:1102-1110.