Article
Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions.
European journal of neurology - 1 Dec 2008
Trevisan C P, Pastorello E, Tomelleri G, Vercelli L, Bruno C, Scapolan S, Siciliano G, Comacchio F
Abstract excerpt
BACKGROUND AND PURPOSE: Patients affected by facioscapulohumeral muscular dystrophy (FSHD) with unusual large 4q35 deletions tend to present atypical features in early childhood. We explored the clinical presentation of patients with a very short 4q35 fragment (10-13 kb) focusing on hearing loss, a still debated FSHD extra-muscular manifestation. PATIENTS AND METHODS: We evaluated six cases with EcoRI 4q35...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.