Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family

Clinical Neurology and Neurosurgery

Volumn 109, Issue 3, 2007, Pages 250-256

  Chu, Chun Che ^a   Kuo, Hung Chou ^a   Yeh, Tu Hsueh ^a   Ro, Long Sun ^a   Chen, Shyue Ru ^a   Huang, Chin Chang ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Distal myopathy; DMRV; GNE gene; Heterozygous mutation; Rimmed vacuole

Indexed keywords

ARGININE; EPIMERASE; GLUTAMINE; ISOLEUCINE; PHOSPHOTRANSFERASE; SERINE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE;

ADULT; ARTICLE; ASIAN; CASE REPORT; CLINICAL FEATURE; DISTAL MYOPATHY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; MALE; PHENOTYPE; PROGRESSIVE MUSCULAR DYSTROPHY; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE GENE;

ADULT; BIOPSY; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FEMALE; HAPLOTYPES; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE IMAGING; MALE; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; PEDIGREE; PHENOTYPE; POINT MUTATION; RACEMASES AND EPIMERASES; TAIWAN; VACUOLES;

EID: 33847055490     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2006.09.008     Document Type: Article

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