A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

Neuromuscular Disorders

Volumn 13, Issue 10, 2003, Pages 830-834

  Krause, Sabine ^a,b   Schlotter Weigel, Beate ^a   Walter, Maggie C ^a,b   Najmabadi, Hossein ^c   Wiendl, Heinz ^d   Müller Höcker, Josef ^b   Müller Felber, Wolfgang ^a   Pongratz, Dieter ^a   Lochmüller, Hanns ^a,b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^d UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

GNE mutation; Hereditary inclusion body myopathy; Inflammation; Quadriceps sparing myopathy

Indexed keywords

ADENINE; EPIMERASE; GUANINE; IMMUNOGLOBULIN; ISOLEUCINE; PROTEIN KINASE; STEROID; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE; VALINE;

ADULT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; EXON; GENE MUTATION; GENETIC DISORDER; HOMOZYGOTE; HUMAN; INCLUSION BODY MYOSITIS; IRAN; JEW; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOSITIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DOMAIN; QUADRICEPS FEMORIS MUSCLE; STEROID THERAPY;

EID: 0346219378     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00140-8     Document Type: Article

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