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Limb-girdle Muscular Dystrophies in India: A Review

Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubM...

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Autores principales: Khadilkar, Satish V., Faldu, Hinaben Dayalal, Patil, Sarika Bapuso, Singh, Rakesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470147/
https://www.ncbi.nlm.nih.gov/pubmed/28615891
http://dx.doi.org/10.4103/aian.AIAN_81_17
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author Khadilkar, Satish V.
Faldu, Hinaben Dayalal
Patil, Sarika Bapuso
Singh, Rakesh
author_facet Khadilkar, Satish V.
Faldu, Hinaben Dayalal
Patil, Sarika Bapuso
Singh, Rakesh
author_sort Khadilkar, Satish V.
collection PubMed
description Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.
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spelling pubmed-54701472017-06-14 Limb-girdle Muscular Dystrophies in India: A Review Khadilkar, Satish V. Faldu, Hinaben Dayalal Patil, Sarika Bapuso Singh, Rakesh Ann Indian Acad Neurol Review Article Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5470147/ /pubmed/28615891 http://dx.doi.org/10.4103/aian.AIAN_81_17 Text en Copyright: © 2006 - 2017 Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Review Article
Khadilkar, Satish V.
Faldu, Hinaben Dayalal
Patil, Sarika Bapuso
Singh, Rakesh
Limb-girdle Muscular Dystrophies in India: A Review
title Limb-girdle Muscular Dystrophies in India: A Review
title_full Limb-girdle Muscular Dystrophies in India: A Review
title_fullStr Limb-girdle Muscular Dystrophies in India: A Review
title_full_unstemmed Limb-girdle Muscular Dystrophies in India: A Review
title_short Limb-girdle Muscular Dystrophies in India: A Review
title_sort limb-girdle muscular dystrophies in india: a review
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470147/
https://www.ncbi.nlm.nih.gov/pubmed/28615891
http://dx.doi.org/10.4103/aian.AIAN_81_17
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