Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy-Reference-Cited by-同舟云学术

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Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

Published:1999-12-01 Issue:8 Volume:9 Page:573-579
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:
Short-container-title:

Author:

Tan P

Publisher

Elsevier BV

Subject

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

Cited by 106 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. Congenital myopathies: pathophysiological mechanisms and promising therapies;Journal of Translational Medicine;2024-09-02

2. Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report;Cureus;2024-07-04

3. Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy;Skeletal Muscle;2023-11-07

4. Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report;Journal of Neuromuscular Diseases;2023-09-08

5. Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern;Neuromuscular Disorders;2022-08

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