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Article

Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.

European journal of human genetics : EJHG - 1 Aug 2025

Puma Angela, Tammam Giulia, Ezaru Andra, Slioui Abderhmane, Torchia Eleonora, Tasca Giorgio, Villa Luisa, Cavalli Michele, Salviati Leonardo, van der Vliet Patrick J, Lemmers Richard Jlf, Pini Jonathan, van der Maarel Silvère M, Sacconi Sabrina

Abstract excerpt

Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investigated FSHD1 patients classified as category D according to the Comprehensive Clinical Evaluation Form (CCEF), a category defined by FSHD patients showing uncommon clinical features, to identify genetic causes explaining...

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Identifiers

PMID: 39775061
DOI: 10.1038/s41431-024-01770-0
PMCID: PMC12322215

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