Actin mutations are one cause of congenital fibre type disproportion-Reference-Cited by-同舟云学术

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Actin mutations are one cause of congenital fibre type disproportion

Published:2004 Issue:5 Volume:56 Page:689-694
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Laing Nigel G.,Clarke Nigel F.,Dye Danielle E.,Liyanage Khema,Walker Kendall R.,Kobayashi Yasuaki,Shimakawa Shuichi,Hagiwara Tohru,Ouvrier Robert,Sparrow John C.,Nishino Ichizo,North Kathryn N.,Nonaka Ikuya

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference16 articles.

1. International;Brooke,1973

2. Congenital Fiber Type Disproportion—30 Years On

3. Congenital myopathies at their molecular dawning

4. Type 1 Fiber Size Disproportion

5. Muscle fiber type transformation in nemaline myopathy and congenital fiber type disproportion

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

2. Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy;Human Molecular Genetics;2023-10-26

3. Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion;Journal of Genetics;2023-01-24

4. Congenital myopathies;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

5. Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies;Journal of General Physiology;2022-08-18

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