Population
Patients with Facioscapulohumeral muscular dystrophy (FSHD)
Design
Review
Authors
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May inform diagnostic evaluation of suspected FSHD; leaves open identification of specific proximal genes involved.
FSHD is a distinct clinical entity linked to chromosome 4q35 deletions, suggesting a novel molecular pathogenesis involving altered expression of proximal genes.
Tawil et al. (1998) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: