Population
4 patients with atypical clinical features of facioscapulohumeral dystrophy harboring 4q35 deletions, cared…
Design
Case_series
Authors
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Consider FSHD in atypical myopathies; case reports extend the phenotypic spectrum but leave prevalence and testing criteria open.
Patients with the FSHD 4q35 deletion can present with atypical phenotypes, highlighting the clinical heterogeneity of the disease.
Felice et al. (2001) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: