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
- 2021.1
- 수록면
- 53 - 55 (3page)
이용수
초록· 키워드
오류제보하기
Congenital myasthenic syndromes (CMSs) are rare genetic disorders characterized by weakness and fatigue resulting from impaired neuromuscular transmission. Genetic testing can confirm the diagnosis for some types of CMS; however, variations in genotype, clinical phenotypes, age at disease onset, and responses to treatment make diagnosis very difficult. Here we present two adult patients who had significant decremental responses in repetitive nerve stimulation testing and multi-minicore pathology, and who responded to treatment with a cholinesterase inhibitor.
목차
등록된 정보가 없습니다.
참고문헌 (7)
참고문헌 신청
Engel AG / 2015 / Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment / Lancet Neurol 14:420~434
Engel AG / 1971 / Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers / Mayo Clin Proc 46:666~681
Jungbluth H / 2004 / 111th ENMC international workshop on multi-minicore disease. 2nd international MmD workshop, 9-11 November 2002, Naarden, The Netherlands / Neuromuscul Disord 14:754~766
Jungbluth H / 2007 / Multi-minicore disease / Orphanet J Rare Dis 2:31
Nucci A / 2004 / Multi-minicore disease revisited / Arq Neuropsiquiatr 62:935~939
Engel AG / 1971 / Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers / Mayo Clin Proc 46:666~681
Jungbluth H / 2004 / 111th ENMC international workshop on multi-minicore disease. 2nd international MmD workshop, 9-11 November 2002, Naarden, The Netherlands / Neuromuscul Disord 14:754~766
Jungbluth H / 2007 / Multi-minicore disease / Orphanet J Rare Dis 2:31
Nucci A / 2004 / Multi-minicore disease revisited / Arq Neuropsiquiatr 62:935~939
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Gait Disturbance as an Initial Manifestation of the Paraneoplastic Neurologic Syndrome in a Patient with Lung Cancer
대한근전도 전기진단의학회지
2020 .01
-
Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders
Korean Journal of Ophthalmology
2017 .06
-
Nerve conduction studies: basic principal and clinical usefulness
Annals of Clinical Neurophysiology
2018 .01
-
Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics
Childhood Kidney Diseases
2024 .02
-
Clinical Genetic Testing in Children with Kidney Disease
Childhood Kidney Diseases
2021 .01
-
후천적 신경근육이음부질환 환자에 대한 접근방법
대한근전도 전기진단의학회지
2019 .01
-
Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel
Clinical and Experimental Pediatrics
2018 .01
-
A case report of a long-term abandoned torn lingual nerve injury repaired by collagen nerve graft induced by lower third molar extraction
Maxillofacial Plastic Reconstructive Surgery
2019 .01
-
신경 신장 적용 시간에 따른 신경흥분성 변화
PNF and movement
2018 .01
-
Sciatic neurotmesis and periostitis ossificans progressiva due to a traumatic/unexpected glass injury: a case report
Journal of Yeungnam Medical Science
2024 .01
-
소아 급성림프구성백혈병에서 항암화학요법 후 발생하는 말초신경병증의 양상
Clinical Pediatric Hematology-Oncology
2017 .01
-
암 환자에서의 신경근 질환
대한근전도 전기진단의학회지
2016 .01
-
Correction: Nerve Conduction Study of the Distal Branches of the Superficial Radial Nerve
Annals of Rehabilitation Medicine
2017 .01
-
Integrated diagnostic approach of pediatric neuromuscular disorders
Journal of genetic medicine
2018 .01
-
Muscle pathology in neuromuscular disorders
Annals of Clinical Neurophysiology
2020 .01
-
회돌이 후두신경재생을 위한 신경도관의 활용
International Journal of Thyroidology
2023 .05
-
Multivariable Analysis in Recovery of Mandibular Nerve Disturbance
Journal of Korean Dental Science
2025 .03
-
Complex Variations of the Sciatic Nerve Branch and Morphological Variation of the Piriformis Muscle: a Case Report
해부·생물인류학
2022 .12
-
Palmar Digital Neuropathy With Anatomical Variation of Median Nerve: Usefulness of Orthodromic Technique: A Case Report
Annals of Rehabilitation Medicine
2019 .01
-
What’s new in neuromuscular pathology 2022: myopathy updates and gene therapies
Journal of Pathology and Translational Medicine
2023 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0