Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference17 articles.
1. X-linked myopathy with excessive autophagy: a clinicopathological study of five new families;Chabrol;Neuromuscul Disord,2001
2. Late-adult onset of X-linked myopathy with excessive autophagy (XMEA);Crockett;Muscle Nerve,2014
3. X-linked myopathy with excessive autophagy: a new hereditary muscle disease;Kalimo;Ann Neurol,1988
4. X-linked vacuolated myopathy: membrane attack complex deposition on muscle fibre membranes with calcium accumulation on sarcolemma;Louboutin;Ann Neurol,1997
5. X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibres;Villanova;Ann Neurol,1995
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1. Diagnosing X-Linked Myopathy With Excessive Autophagy After 30 years: Genetic, Ultrasonographic, and Electrodiagnostic Findings;Journal of Clinical Neuromuscular Disease;2024-09
2. 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
3. Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression;Journal of Medical Genetics;2024-05-06
4. Phenotype variability and natural history of X-linked myopathy with excessive autophagy;Journal of Neurology;2024-03-22
5. 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
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