지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 494 - 497 (4page)
이용수
초록· 키워드
오류제보하기
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.
목차
등록된 정보가 없습니다.
참고문헌 (6)
참고문헌 신청
Cho A / 2014 / Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy) / J Neurol Neurosurg Psychiatry 85 : 914 ~ 917
Kim BJ / 2006 / Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles / J Hum Genet 51 : 137 ~ 140
Nonaka I / 2005 / Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy / Curr Neurol Neurosci Rep 5 : 61 ~ 65
Ohno K. / 2014 / Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis / J Neurol Neurosurg Psychiat
Stasche R / 1997 / A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UD
Kim BJ / 2006 / Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles / J Hum Genet 51 : 137 ~ 140
Nonaka I / 2005 / Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy / Curr Neurol Neurosci Rep 5 : 61 ~ 65
Ohno K. / 2014 / Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis / J Neurol Neurosurg Psychiat
Stasche R / 1997 / A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UD
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
GNE Myopathy with Prominent Axial Muscle Involvement
Journal of Clinical Neurology
2018 .01
-
Progression of GNE Myopathy Based on the Patient-Reported Outcome
Journal of Clinical Neurology
2019 .01
-
Myopathy, Drugs, and Mitochondria
Journal of Korean Medical Science
2017 .01
-
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions
Journal of Clinical Neurology
2017 .07
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region
Journal of Clinical Neurology
2015 .01
-
Advances in Idiopathic Inflammatory Myopathies Classification: Paving the Way for Personalized Management
Journal of Clinical Neurology
2024 .01
-
Muscle pathology in neuromuscular disorders
Annals of Clinical Neurophysiology
2020 .01
-
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
-
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
-
A Case of Focal Myopathy With Neuropathy Caused by Intramuscular Vascular Malformation
Journal of Clinical Neurology
2023 .05
-
Electron Microscopy Pathology of ADSSL1 Myopathy
Journal of Clinical Neurology
2017 .01
-
A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure
Annals of Laboratory Medicine
2021 .11
-
A New Perspective on the Quality of Life of Children with Glycogen Storage Diseases
Pediatric Gastroenterology, Hepatology & Nutrition
2022 .07
-
Successful Treatment of Tolosa-Hunt Syndrome after a Single Infusion of Infliximab
Journal of Clinical Neurology
2018 .01
-
성인에서 원위근병증으로 발현된 네말린근병증
Annals of Clinical Neurophysiology
2016 .01
-
Incidence, Clinical Features, and Prognostic Impact of CALR Exon 9 Mutations in Essential Thrombocythemia and Primary Myelofibrosis: An Experience of a Single Tertiary Hospital in Korea
Annals of Laboratory Medicine
2015 .01
-
The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma
Cancer Research and Treatment
2018 .01
-
A family with dynamin 2-related centronuclear myopathy without ocular involvement
Journal of genetic medicine
2016 .01
-
Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family
Journal of Clinical Neurology
2015 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0