两个不相关的巴西家庭中X连锁VMA21相关肌病的临床、影像学、形态学和分子特征 - Suppr

Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.

作者信息

Cotta Ana, Carvalho Elmano, da-Cunha-Junior Antonio Lopes, Navarro Monica M, Menezes Miriam M, Paim Julia F, Valicek Jaquelin, Lima Maria Isabel, Velloso-Filho Roberto, Freire-Lyra Maria Henriqueta, Takata Reinaldo I, Inoue Michio, Okubo Mariko, Iida Aritoshi, Nishino Ichizo

机构信息

Department of Pathology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil.

Department of Neurophysiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, (MG), Brazil.

出版信息

J Neurol Sci. 2020 Aug 15;415:116977. doi: 10.1016/j.jns.2020.116977. Epub 2020 Jun 5.

DOI:10.1016/j.jns.2020.116977

PMID:32535249

Abstract

摘要

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Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.两个不相关的巴西家庭中X连锁VMA21相关肌病的临床、影像学、形态学和分子特征

J Neurol Sci. 2020 Aug 15;415:116977. doi: 10.1016/j.jns.2020.116977. Epub 2020 Jun 5.

Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.鉴定出一种肌肉特异性的 VMA21 同工型，它是一种在 X 连锁肌病伴过度自噬发病机制中起关键作用的因子。

Hum Mol Genet. 2023 Dec 1;32(24):3374-3389. doi: 10.1093/hmg/ddad164.

Altered muscle differentiation in X-linked myopathy with excessive autophagy.X 连锁肌病伴过度自噬中的肌肉分化改变。

Dis Model Mech. 2020 Jan 10;13(2):dmm041244. doi: 10.1242/dmm.041244.

Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy.非编码VMA21缺失导致伴有过度自噬的X连锁肌病。

Neuromuscul Disord. 2015 Mar;25(3):207-11. doi: 10.1016/j.nmd.2014.11.014. Epub 2014 Nov 26.

VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.VMA21缺乏通过损害V-ATP酶活性和溶酶体酸化导致自噬性肌病。

Cell. 2009 Apr 17;137(2):235-46. doi: 10.1016/j.cell.2009.01.054.

Novel Intronic Mutation in Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.导致 X 连锁肌病伴过度自噬的新型内含子突变：病例报告。

Genes (Basel). 2022 Nov 29;13(12):2245. doi: 10.3390/genes13122245.

X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.X 连锁肌病伴过度自噬——儿童空泡性肌病的一个罕见病因。

Neurol India. 2022 Jul-Aug;70(4):1643-1648. doi: 10.4103/0028-3886.355110.

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.VMA21 缺乏症可阻止液泡型三磷酸腺苷酶组装，并导致自噬性空泡肌病。

Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12.

Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.伴有过度自噬的严重X连锁肌病中的心脏自噬空泡化

Neuromuscul Disord. 2017 Feb;27(2):185-187. doi: 10.1016/j.nmd.2016.10.007. Epub 2016 Oct 19.

X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China.VMA21基因突变异致X连锁伴自噬亢进性肌病：中国首例报告

Neurol Sci. 2022 Mar;43(3):2137-2139. doi: 10.1007/s10072-021-05788-w. Epub 2022 Jan 11.

引用本文的文献

Identification of a Novel Intronic Mutation in Associated with a Classical Form of X-Linked Myopathy with Autophagy.与经典型X连锁自噬性肌病相关的一种新型内含子突变的鉴定。

Glob Med Genet. 2024 May 10;11(2):167-174. doi: 10.1055/s-0044-1786815. eCollection 2024 Jun.

Phenotype variability and natural history of X-linked myopathy with excessive autophagy.X 连锁肌病伴过度自噬的表型变异性和自然史。

J Neurol. 2024 Jul;271(7):4008-4018. doi: 10.1007/s00415-024-12298-0. Epub 2024 Mar 22.

Novel Intronic Mutation in Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.导致 X 连锁肌病伴过度自噬的新型内含子突变：病例报告。

Genes (Basel). 2022 Nov 29;13(12):2245. doi: 10.3390/genes13122245.

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Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.

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