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Article: Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: High prevalence of 525del T
- Article from:
- Neurology India
- Article date:
- October 1, 2009
- Author:
CopyrightCopyright Medknow Publications & Media Pvt. Ltd. Oct-Dec 2009. Provided by ProQuest LLC. (Hide copyright information)
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Introduction
Sarcoglycanopathies manifest with progressive weakness of the limb girdle muscles presenting in childhood or adult life. These muscular dystrophies result from mutations in one of the four sarcoglycan genes [SG].[1] Studies of different populations have revealed a variable frequency of sarcoglycanopathies as a clinical subgroup of neuromuscular diseases, as well as variable frequencies of mutations in each of the four SGs. [2],[3] The phenotypic and immunocytochemical analysis of Indian sarcoglycanopathy patients have been described earlier in small hospital-based studies. [4],[5],[6] No information is available on the genetic aspects of Indian patients having ...