Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Cited by 104 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. Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy;Skeletal Muscle;2023-11-07
2. 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
3. Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern;Neuromuscular Disorders;2022-08
4. Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy;Molecular Diagnosis & Therapy;2022-07-07
5. A review of major causative genes in congenital myopathies;Journal of Human Genetics;2022-06-07
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