Article

Identifying disease-causing mechanisms and fundamental biology of neuromuscular disorder genes through genomic feature analysis

2026-04-22

Abstract excerpt

<h4>Introduction</h4> Neuromuscular disorders (NMDs) encompass a broad group of conditions that primarily affect the peripheral nervous system. They are often caused by genetic alterations that impair skeletal muscle function and result in debilitating symptoms. Obtaining an accurate molecular diagnosis remains a challenge, potentially because variants in genes that have yet to be identified as causal. We therefo...

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Literature Corpus work: b846b6f6-bcfc-510c-9d79-02646fbb7d03
DOI: 10.64898/2026.04.21.719902

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