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- W2023356116 abstract "<h3>Background</h3> Facioscapulohumeral muscular dystrophy (FSHD) is associated with a deletion on chromosome 4q35. Recent studies have shown that this deletion is found in patients with other phenotypes in addition to those with the classic Landouzy-Dejerine FSHD phenotype. <h3>Objective</h3> To examine patients with atypical phenotypes and an FSHD deletion on chromosome 4q35. <h3>Design</h3> Clinical characterization and genotype-phenotype correlation. <h3>Setting</h3> University hospital. <h3>Patients</h3> Forty-one symptomatic subjects with deletions on chromosome 4q35. <h3>Results</h3> We found 6 patients with atypical FSHD. Three (from a single family with FSHD) had additional symptoms of chronic progressive external ophthalmoplegia (4q35<i>Eco</i>RI/<i>Bln</i>I fragment size, 20 kilobase [kb]), and 3 patients (1 with sporadic disease and 2 from a single family) had facial-sparing scapulohumeral dystrophy (4q35<i>Eco</i>RI/<i>Bln</i>I fragment size, 30 and 34 kb, respectively). <h3>Conclusions</h3> The clinical presentations in patients with FSHD-associated short fragments on chromosome 4q35 are not restricted to the classic FSHD form, but constitute a variety of clinical manifestations. There seems to be no clear correlation between the atypical subtype and the DNA fragment size due to the deletion." @default.
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- W2023356116 date "2003-10-01" @default.
- W2023356116 modified "2023-09-30" @default.
- W2023356116 title "Atypical Phenotypes in Patients With Facioscapulohumeral Muscular Dystrophy 4q35 Deletion" @default.
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- W2023356116 doi "https://doi.org/10.1001/archneur.60.10.1421" @default.
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