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Article

Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation.

Journal of medical genetics - 20 Jun 2024

Wan Yalan, Zhou Chao, Chang Xingzhi, Wu Liwen, Zheng Yilei, Yu Jiaxi, Bai Li, Luan Mingyue, Yu Meng, Wang Qi, Zhang Wei, Yuan Yun, Deng Jianwen, Wang Zhaoxia

Abstract excerpt

BACKGROUND: Congenital myopathies are a clinical, histopathological and genetic heterogeneous group of inherited muscle disorders that are defined on peculiar architectural abnormalities in the muscle fibres. Although there have been at least 33 different genetic causes of the disease, a significant percentage of congenital myopathies remain genetically unresolved. The present study aimed to report a novel TUBA4A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myopathies, Structural, Congenital

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Source

Identifiers

PMID: 38413182
DOI: 10.1136/jmg-2023-109786

Genes

TUBA4A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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