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DOI: 10.1055/s-0035-1557315
Duchenne muscular dystrophy: Study of double deletions and familial cases
Subject Editor:
Publication History
17 July 2005
12 November 2005
Publication Date:
29 July 2015 (online)
Abstract
In a cohort of 40 consecutive patients with dystrophinopathy, 29 (72.5%) showed dystrophin gene deletions. Five (17.2%) of these deletions had two non-contiguous deletions involving proximal and central hotspot regions i.e. double deletions. Patients with double deletions tended to have superior functional grading than those with single or no deletion. Double deletions within the dystrophin gene form an interesting feature of this cohort of Indian patients. Sporadic cases amounted to 75% (30/40). Deletions in the sporadic Duchenne muscular dystrophy patients were localized to the central hotspot region. The proximal hotspot mutations were seen exclusively in the families with affected siblings. Clinical course of affected siblings was largely concordant, except for one family. One family with intrafamilial phenotypic variability is reported. The three male cousins in this family had phenotypes varying from Duchenne muscular dystrophy, Becker's muscular dystrophy to cramp myalgia.