Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant-Reference-Cited by-同舟云学术

Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant

Published:2023-07 Issue:7 Volume:33 Page:557-561
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Blanco-Arias Patricia,Medina Martínez Inmaculada,Arrabal Fernández Luisa,Rivas Infante Eloy,Salmerón Fernández Maria Jose,González Hervás Catalina,Azcón González de Aguilar Pilar,Armengol Lluis,Pedrinaci Susana,Perin Francesca^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference16 articles.

1. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy;Ramachandran;Acta Neuropathol,2013

2. A new congenital form of X-linked autophagic vacuolar myopathy;Yan;Neurology,2005

3. A. Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy;Ruggieri;Neuromuscul Disord,2015

4. X-linked myopathy with excessive autophagy: a new hereditary muscle disease;Kalimo;Ann Neurol,1988

5. X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers;Villanova;Ann Neurol,1995

Cited by 2 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. Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy;Global Medical Genetics;2024-05-10

2. Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis;Human Molecular Genetics;2023-09-26