Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 8, 2014, Pages 912-915

  Cho, Anna ^a   Hayashi, Yukiko K ^a,b,c   Monma, Kazunari ^a   Oya, Yasushi ^b   Noguchi, Satoru ^a   Nonaka, Ikuya ^a   Nishino, Ichizo ^a,b  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c TOKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; DNA; EPIMERASE; UDP ACETYLGLUCOSAMINE 2 EPIMERASE; UDP ACETYLGLUCOSAMINE-2-EPIMERASE;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DISTAL MYOPATHY; DISTAL MYOPATHY WITH RIMMED VACUOLE; EXON; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GNE GENE; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INDEL MUTATION; INTRON; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; ALLELE; DNA FINGERPRINTING; GENETICS; GENOTYPE; JAPAN; MIDDLE AGED; MUSCLE DISEASE; MUTATION; MYOPATHY; PATHOLOGY; PHENOTYPE; SKELETAL MUSCLE; YOUNG ADULT;

GENETICS; MUSCLE DISEASE; MYOPATHY;

ADULT; AGE OF ONSET; ALLELES; CARBOHYDRATE EPIMERASES; DISTAL MYOPATHIES; DNA; DNA FINGERPRINTING; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84906671498     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-305587     Document Type: Article

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