Article

Double Trouble: A Comprehensive Study Into Unrelated Genetic Comorbidities in Adult Patients with Facioscapuluhumeral Muscular Dystrophy Type I

2024-09-12

Abstract excerpt

<title>Abstract</title> <p>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...

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Literature Corpus work: eca6a00d-c18b-5dac-b751-5a1d54a72aa8
DOI: 10.21203/rs.3.rs-4757345/v1

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