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Article

Genetic modifiers and phenotypic variability in neuromuscular disorders.

Journal of applied genetics - 1 Dec 2020

Mroczek Magdalena, Sanchez Maria Gabriela

Abstract excerpt

Neuromuscular disorders are mostly rare diseases with autosomal dominant, recessive, or X-linked inheritance. Interestingly, among patients carrying the same mutations, a range of phenotypic severity is reported. This phenotypic variability in neuromuscular disorders is still not fully understood. This review will focus on genetic modifiers and will briefly describe metabolic pathways, in which they are involved....

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PMID: 32918245
DOI: 10.1007/s13353-020-00580-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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