Limb girdle muscular dystrophies in India.
The recent years have seen remarkable progress in the field of limb girdle muscular dystrophies (LGMDs) with the advances in immunocytochemistry and genetics. Based on this, many subgroups have emerged. Protein products and genes are getting defined and newer mechanisms of disease are being recognized. Limb girdle muscular dystrophies are common in India. The clinical material is plentiful, and from various centers in the country, phenotypes have been studied. With the help of immunocytochemistry, sarcoglycanopathies and dysferlinopathies have been studied. Genetic information on these subgroups is now beginning to emerge. The laboratory facilities are limited and available in select centers in large institutes. Establishment of genetic laboratories and sophisticated muscle pathology techniques will further elucidate the LGMDs in India.
Khadilkar
Satish V
SV
Department of Neurology, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, India. khadilkar@vsnl.com
Singh
Rakesh K
RK
D000818:Animals; D006801:Humans; D007194:India / Q000453:epidemiology; D051379:Mice; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D010641:Phenotype; D015995:Prevalence