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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2017
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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. |
format | Online Article Text |
id | pubmed-5470147 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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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