Population
41 symptomatic subjects with deletions on chromosome 4q35
Design
Case_series
Authors
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Atypical FSHD presentations warrant diagnostic consideration; case report leaves open fragment size-phenotype correlations.
Patients with FSHD-associated short fragments on chromosome 4q35 can present with atypical phenotypes such as chronic progressive external ophthalmoplegia or facial-sparing scapulohumeral dystrophy.
Krasnianski et al. (2003) studied this question.
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