Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patient in Thailand

Muscle and Nerve

Volumn 34, Issue 6, 2006, Pages 775-778

  Liewluck, Teerin ^a   Pho Iam, Theeraphong ^a   Limwongse, Chanin ^a   Thongnoppakhun, Wanna ^a   Boonyapisit, Kanokwan ^a   Raksadawan, Natte ^b   Murayama, Kumiko ^c   Hayashi, Yukiko K ^c   Nishino, Ichizo ^c   Sangruchi, Tumtip ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b Bangkok Neuroscience Center   (Thailand)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Distal myopathy with rimmed vacuoles; DMRV; GENE; Hereditary inclusion body myopathy; UDP N acetylglucosamine 2 epimerase N acetylmannosamine kinase

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; EPIMERASE; GLYCINE; ISOLEUCINE; METHIONINE; PROLINE; THREONINE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; VALINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COMPOUND HETEROZYGOUS MUTATION; DISTAL MYOPATHY; DISTAL MYOPATHY WITH RIMMED VACUOLE; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; GNE GENE; HETEROZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PRIORITY JOURNAL; THAILAND;

ADULT; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; MALE; MULTIENZYME COMPLEXES; MUTATION; THAILAND; VACUOLES;

EID: 33845309442     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20583     Document Type: Article

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