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Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.

Scientific reports - 15 Feb 2024

Choi Won-Jun, Kim Soo-Hyun, Lee Sung Rok, Oh Seung-Hun, Kim Seung Woo, Shin Ha Young, Park Hyung Jun

Abstract excerpt

Genetic neuromuscular diseases are clinically and genetically heterogeneous genetic disorders that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study aimed to identify pathogenic variants, calculate carrier frequency, and predict the genetic prevalence of autosomal recessive neuromuscular diseases (AR-NMDs). We selected 268 AR-NMD genes and analyzed their genetic variants...

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Identifiers

PMID: 38361118
DOI: 10.1038/s41598-024-54413-1
PMCID: PMC10869705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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