X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant-Reference-Cited by-同舟云学术

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X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

Published:2020-11 Issue:11 Volume:63 Page:104040
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Kraatari Minna,Tuominen Hannu,Tuupanen Sari,Haapaniemi Tarja,Moilanen Jukka,Rahikkala Elisa

Funder

Uuno Kokki Foundation

Finnish Cultural Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference25 articles.

1. A natural history study of X-linked myotubular myopathy;Amburgey;Neurology,2017

2. X-linked myotubular myopathy: a prospective international natural history study;Annoussamy;Neurology,2019

3. A multicenter, retrospective medical record review of X-linked myotubular myopathy: the recensus study;Beggs;Muscle Nerve,2018

4. “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy;Bevilacqua;Acta Neuropathol.,2009

5. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues;Biancalana;Acta Neuropathol.,2017

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. X-linked myotubular myopathy in a family of two infant siblings: A case report and review;Pediatrics & Neonatology;2024-07

2. X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement;Internal Medicine;2024

3. Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review;European Journal of Obstetrics & Gynecology and Reproductive Biology;2023-12

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