Clinical and Histologic Findings in ACTA1 -Related Nemaline Myopathy: Case Series and Review of the Literature-Reference-Cited by-同舟云学术

Clinical and Histologic Findings in ACTA1 -Related Nemaline Myopathy: Case Series and Review of the Literature

Published:2017-10 Issue: Volume:75 Page:11-16
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Moreno Cristiane de Araújo Martins^ORCID,Abath Neto Osório,Donkervoort Sandra,Hu Ying,Reed Umbertina Conti,Oliveira Acary Sousa Bulle,Bönnemann Carsten,Zanoteli Edmar

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference30 articles.

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2. Nemaline myopathies;Wallgren-Pettersson;Semin Pediatr Neurol,2011

3. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin;Wallgren-Pettersson;Neuromuscul Disord,2004

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. Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition;Frontiers in Neurology;2024-03-04

2. A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy;Neuromuscular Disorders;2024-01

3. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy;Neurological Sciences;2023-10-18

4. Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center;Acta Neurologica Belgica;2023-07-31

5. 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