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Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy.

作者信息

Tezen Didem, Khojakulov Zakhiriddin, Gündüz Ayşegül, Deymeer Feza, Demirbilek Veysi, Başak Ayşe Nazlı

机构信息

Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University- Cerrahpasa, Cerrahpaşa Mah. Kocamustafapaşa Cad. No:11, Fatih, Istanbul, Turkey.

Neurodegeneration Research Laboratory, NDAL-KUTTAM, School of Medicine, Suna and Inan Kıraç Foundation, Koc University, Istanbul, Turkey.

出版信息

Neurol Sci. 2024 Dec;45(12):5967-5971. doi: 10.1007/s10072-024-07771-7. Epub 2024 Oct 1.

DOI:10.1007/s10072-024-07771-7
PMID:39352617
Abstract
摘要

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本文引用的文献

1
Clinical and genetic characterization of NEFL-related neuropathy in Taiwan.台湾地区与神经丝轻链（NEFL）相关的神经病变的临床与遗传学特征
J Formos Med Assoc. 2023 Feb;122(2):132-138. doi: 10.1016/j.jfma.2022.08.008. Epub 2022 Aug 26.
2
A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.神经丝蛋白 L 突变引起的夏科-马里-图什病的临床文献回顾与分析。
Cytoskeleton (Hoboken). 2021 Mar;78(3):97-110. doi: 10.1002/cm.21676. Epub 2021 Jun 3.
3
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.
先天性肌无力综合征儿科病例的长期随访——一项回顾性单中心队列研究
Front Hum Neurosci. 2020 Dec 7;14:560860. doi: 10.3389/fnhum.2020.560860. eCollection 2020.
4
Congenital myasthenic syndromes.先天性肌无力综合征。
Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5.
5
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.先天性肌无力综合征：发病机制、诊断与治疗
Lancet Neurol. 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7.
6
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.夏科-马里-图思病的诊断、自然病史及治疗
Lancet Neurol. 2009 Jul;8(7):654-67. doi: 10.1016/S1474-4422(09)70110-3.
7
Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings.X连锁脱髓鞘型夏科-马里-图斯病：不寻常的电生理表现
Muscle Nerve. 1999 Oct;22(10):1442-7. doi: 10.1002/(sici)1097-4598(199910)22:10<1442::aid-mus16>3.0.co;2-6.
8
Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.由于乙酰胆碱受体突变导致的土耳其家族性肌无力综合征
Ann Neurol. 1998 Aug;44(2):234-41. doi: 10.1002/ana.410440214.