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
- 2019.1
- 수록면
- 275 - 284 (10page)
이용수
초록· 키워드
오류제보하기
Background and Purpose GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology. The initial symptom of foot drop or hip-girdle weakness eventually spreads to all limbs over a period of decades. Recent advances in pathophysiologic research have facilitated therapeutic trials aimed at resolving the core biochemical defect. However, there remains unsettled heterogeneity in its natural course, which confounds the analysis of therapeutic outcomes. We performed the first large-scale study of Korean patients with GNE myopathy. Methods We gathered the genetic and clinical profiles of 44 Korean patients with genetically confirmed GNE myopathy. The clinical progression was estimated retrospectively based on a patient-reported questionnaire on the status of the functional joint sets and daily activities. Results The wrist and neck were the last joints to lose antigravity functionality irrespective of whether the weakness started from the ankle or hip. Two-thirds of the patients could walk either independently or with an aid. The order of losing daily activities could be sorted from standing to eating. Patients with limb-girdle phenotype showed an earlier age at onset than those with foot-drop onset. Patients with biallelic kinase domain mutations tended to progress more rapidly than those with epimerase and kinase domain mutations. Conclusions The reported data can guide the clinical management of GNE myopathy, as well as provide perspective to help the development of clinical trials
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Eisenberg I / 2001 / The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy / Nat Genet 29:83~87
Huizing M / 2014 / GNE myopathy : new name and new mutation nomenclature / Neuromuscul Disord 24:387~389
Park YE / 2012 / Limbgirdle phenotype is frequent in patients with myopathy associated with GNE mutations / J Neurol Sci 321:77~81
Nishino I / 2015 / GNE myopathy : current update and future therapy / J Neurol Neurosurg Psychiatry 86:385~392
De Dios JK / 2014 / Atypical presentation of GNE myopathy with asymmetric hand weakness / Neuromuscul Disord 24:1063~1067
Huizing M / 2014 / GNE myopathy : new name and new mutation nomenclature / Neuromuscul Disord 24:387~389
Park YE / 2012 / Limbgirdle phenotype is frequent in patients with myopathy associated with GNE mutations / J Neurol Sci 321:77~81
Nishino I / 2015 / GNE myopathy : current update and future therapy / J Neurol Neurosurg Psychiatry 86:385~392
De Dios JK / 2014 / Atypical presentation of GNE myopathy with asymmetric hand weakness / Neuromuscul Disord 24:1063~1067
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report
Annals of Rehabilitation Medicine
2015 .01
-
GNE Myopathy with Prominent Axial Muscle Involvement
Journal of Clinical Neurology
2018 .01
-
A practical guide to understanding, using and including patient reported outcomes in clinical trials in ovarian cancer
Journal of Gynecologic Oncology
2018 .01
-
Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis
Journal of Clinical Neurology
2018 .01
-
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria
Journal of Korean Medical Science
2017 .01
-
Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome
Journal of Clinical Neurology
2016 .01
-
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
Yonsei Medical Journal
2016 .01
-
초기 척추관절병증과 혼동되었던 체간 근육의 위약을 동반한 근지대형 근디스트로피, 2A형: 증례 보고
대한근전도 전기진단의학회지
2019 .01
-
Analysis of Mutations in Epidermal Growth Factor Receptor Gene in Korean Patients with Non-small Cell Lung Cancer: Summary of a Nationwide Survey
Journal of Pathology and Translational Medicine
2015 .01
-
Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis
Yonsei Medical Journal
2017 .01
-
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
-
A familial case of limb-girdle muscular dystrophy with CAV3 mutation
Journal of genetic medicine
2019 .01
-
Primary Hyperoxaluria in Korean Pediatric Patients
Childhood Kidney Diseases
2019 .01
-
First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
Journal of Clinical Neurology
2016 .01
-
Clinical Trial
대한임상종양학회 학술대회지
2015 .02
-
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
Journal of Clinical Neurology
2018 .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
-
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea
Journal of Clinical Neurology
2017 .01
-
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome
Annals of Laboratory Medicine
2016 .01
-
Auditory Outcome of Cochlear Implantation in Adolescent and Adult Patients with Enlarged Vestibular Aqueduct and Biallelic SLC26A4 Mutations
대한이비인후-두경부외과학회지
2017 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0