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Neurological Sciences

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01-03-2022 | Diseases of the neuromuscular synapses and muscles | Letter to the Editor

X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China

Authors: Jie Yang, Dingbang Chen, Li Feng, Zhicong Yan, Chao Wu, Huajing You, Bing Liao, Jinlang Wu, Xunhua Li

Published in: Neurological Sciences | Issue 3/2022

Excerpt

Dear Editor, …

Kalimo H, Savontaus ML, Lang H et al (1988) X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol 23(3):258–265. https://doi.org/10.1002/ana.410230308CrossRefPubMed

Dowling JJ, Moore SA, Kalimo H et al (2015) X-linked myopathy with excessive autophagy: a failure of self-eating. Acta Neuropathol 129(3):383–390. https://doi.org/10.1007/s00401-015-1393-4CrossRefPubMed

Ramachandran N, Munteanu I, Wang P et al (2013) VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol 125(3):439–457. https://doi.org/10.1007/s00401-012-1073-6CrossRefPubMed

Wang YQ, Wu Q, Zhou SL, et al (2020) Ultrapathological observation of a case of X-linked myopathy with excessive autophagy under electron microscope. Journal of Chinese Electron Microscopy Society 39(3): p. 331-3. CNKI:SUN:DZXV.0.2020-03-017.

Ruggieri A, Ramachandran N, Wang P et al (2015) Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy. Neuromuscul Disord 25(3):207–211. https://doi.org/10.1016/j.nmd.2014.11.014CrossRefPubMed

Munteanu I, Kalimo H, Saraste A et al (2017) Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy. Neuromuscul Disord 27(2):185–187. https://doi.org/10.1016/j.nmd.2016.10.007CrossRefPubMed

Lupica A, Di Stefano V, Gagliardo A et al (2021) Inherited neuromuscular disorders: which role for serum biomarkers? Brain Sci 11(3):398. https://doi.org/10.3390/brainsci11030398CrossRefPubMedPubMedCentral

Title: X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China
Authors: Jie Yang
Dingbang Chen
Li Feng
Zhicong Yan
Chao Wu
Huajing You
Bing Liao
Jinlang Wu
Xunhua Li
Publication date: 01-03-2022
Publisher: Springer International Publishing
Keywords: Diseases of the neuromuscular synapses and muscles
Myopathy
Published in: Neurological Sciences / Issue 3/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05788-w

At a glance: The STEP trials

Springer Medicine

X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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