Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.

Abstract excerpt

There have been few reports on facioscapulohumeral dystrophy (FSHD) without 4q35 deletion. Most of them had either only mild FSHD phenotype or so called "borderline" EcoRI-fragments (35-38 kb). We analysed the clinical, electrophysiological, histological and genetic features of 46 consecutive patients from 31 families with a typical FSHD phenotype. Five patients from three families were identified with...

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• Share to Chromosomes, Human, Pair 4
• Share to Gene Deletion
• Share to Muscular Dystrophy, Facioscapulohumeral