A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance-Reference-Cited by-同舟云学术

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A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

Published:2011-01 Issue:1 Volume:21 Page:31-36
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Ravenscroft Gianina,Wilmshurst Jo M.,Pillay Komala,Sivadorai Padma,Wallefeld William,Nowak Kristen J.,Laing Nigel G.

Publisher

Elsevier BV

Subject

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

Reference25 articles.

1. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1);Laing;Hum Mutat,2009

2. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene;Jungbluth;Neuromuscul Disord,2001

3. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations;Agrawal;Ann Neurol,2004

4. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat Genet,1999

5. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1;Hung;Neuromuscul Disord,2010

Cited by 22 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. L-tyrosine for treatment of an infant with nemaline rod myopathy;BMJ Case Reports;2024-06

2. Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores;Neuromuscular Disorders;2021-02

3. Congenital Myopathies and Related Disorders;Muscle Biopsy;2021

4. In vivo characterization of skeletal muscle function in nebulin‐deficient mice;Muscle & Nerve;2020-01-21

5. TIAM-1/GEF can shape somatosensory dendrites independently of its GEF activity by regulating F-actin localization;eLife;2019-01-29

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