지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 578 - 582 (5page)
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Purpose: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs. The clinical spectrum of GNE myopathy varies, and it is not clear how the same GNE gene mutations can result in different phenotypes. Here, we present clinical, pathological and genetic characteristics of twenty-one Korean patients with GNE myopathy. Materials and Methods: Twenty-one GNE myopathy patients were included in this study, conducted from 2004 to 2011. Based on medical records, patients’ gender,onset age, family history, clinical history, serum creatine kinase (CK) level, neurologic examination, findings of muscle biopsy, muscle imaging findings and electrophysiologic features were extensively reviewed. Mutation of the GNE gene (9p13.3) was confirmed by DNA direct sequencing analysis in all patients. Results: The mean onset age was 23.8±8.8 years (mean±SD). Patient serum CK levels were slightly to moderately elevated, ranging from 41 to 2610 IU. Among the patients, twelve patients were female and nine patients were male. Except for eight patients, all of the patients presented initially with only distal muscle weakness in the lower extremities. The most common mutation was V572L, followed by C13S. Conclusion:The clinical manifestations of our patients with GNE mutations varied. Among twenty-one patients, thirteen patients showed the typical GNE myopathy phenotype. There was no relationship between clinical features and site of mutation. Therefore, we suggest that neither homozygous nor compound heterozygous models are correlated with disease phenotype or disease severity.
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참고문헌 (18)
참고문헌 신청
Arai A / 2002 / A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees / Ann Neurol 52 : 516 ~ 519
Eisenberg I / 2001 / The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy / Nat Genet 29 : 83 ~
Kim BJ / 2006 / Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles / J Hum Genet 51 : 137 ~ 140
Li H / 2011 / Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles / J Hum Genet 56 : 335 ~ 338
Liewluck T / 2006 / Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand / Muscle Nerve 34 : 775 ~ 778
Eisenberg I / 2001 / The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy / Nat Genet 29 : 83 ~
Kim BJ / 2006 / Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles / J Hum Genet 51 : 137 ~ 140
Li H / 2011 / Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles / J Hum Genet 56 : 335 ~ 338
Liewluck T / 2006 / Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand / Muscle Nerve 34 : 775 ~ 778
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