Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

Journal of the Neurological Sciences

Volumn 318, Issue 1-2, 2012, Pages 100-105

  Mori Yoshimura, Madoka ^a   Monma, Kazunari ^b   Suzuki, Naoki ^c   Aoki, Masashi ^c   Kumamoto, Toshihide ^d   Tanaka, Keiko ^e   Tomimitsu, Hiroyuki ^f   Nakano, Satoshi ^g   Sonoo, Masahiro ^h   Shimizu, Jun ⁱ   Sugie, Kazuma ^j   Nakamura, Harumasa ^a,k   Oya, Yasushi ^a   Hayashi, Yukiko K ^b   Malicdan, May Christine V ^b   Noguchi, Satoru ^b   Murata, Miho ^a   Nishino, Ichizo ^b  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d OITA UNIVERSITY   (Japan)

^e KANAZAWA MEDICAL UNIVERSITY   (Japan)

^f TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^g OSAKA CITY GENERAL HOSPITAL   (Japan)

^h TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ UNIVERSITY OF TOKYO   (Japan)

^j NARA MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^k National Center Hospital of Neurology and Psychiatry   (Japan)

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Author keywords

(UDP N acetyl) 2 epimerase domain; Distal myopathy with rimmed vacuoles; Glucosamine (UDP N acetyl) 2 epimerase N acetylmannosamine kinase; GNE myopathy; Hereditary inclusion body myopathy; N acetylmannosamine kinase domain; Natural history; Questionnaire

Indexed keywords

MANNOSAMINE; N ACETYLMANNOSAMINE KINASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; ARTICLE; CROSS-SECTIONAL STUDY; DISEASE COURSE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLUCOSAMINE (URIDINE DIPHOSPHATE N ACETYL) 2 EPIMERASE MYOPATHY; HUMAN; LIMB WEAKNESS; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MEDICAL RECORD REVIEW; MOBILIZATION; MYOPATHY; ONSET AGE; PRIORITY JOURNAL; SYMPTOM;

ADOLESCENT; ADULT; AGED; CARBOHYDRATE EPIMERASES; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MULTIENZYME COMPLEXES; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PROTEIN STRUCTURE, TERTIARY; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84861639380     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.03.016     Document Type: Article

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