Clinical and Histologic Findings in ACTA1 -Related Nemaline Myopathy: Case Series and Review of the Literature
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference30 articles.
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4. Nemaline myopathies: State of the art;Malfatti;Rev Neurol (Paris),2016
5. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy;Lehtokari;Hum Mutat,2006
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1. A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy;Neuromuscular Disorders;2024-01
2. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy;Neurological Sciences;2023-10-18
3. Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center;Acta Neurologica Belgica;2023-07-31
4. Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants;European Journal of Human Genetics;2023-07-18
5. Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects;Neuromuscular Disorders;2023-07
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