Literature DB >> 18974554

Limb girdle muscular dystrophies in India.

Satish V Khadilkar1, Rakesh K Singh.   

Abstract

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.

Entities:  

Mesh:

Year:  2008        PMID: 18974554     DOI: 10.4103/0028-3886.43446

Source DB:  PubMed          Journal:  Neurol India        ISSN: 0028-3886            Impact factor:   2.117


  4 in total

1.  Oxidative stress, NF-κB and the ubiquitin proteasomal pathway in the pathology of calpainopathy.

Authors:  Dhanarajan Rajakumar; Mathew Alexander; Anna Oommen
Journal:  Neurochem Res       Date:  2013-07-12       Impact factor: 3.996

2.  Phenotypic and immunohistochemical characterization of sarcoglycanopathies.

Authors:  Ana F B Ferreira; Mary S Carvalho; Maria Bernadete D Resende; Alda Wakamatsu; Umbertina Conti Reed; Suely Kazue Nagahashi Marie
Journal:  Clinics (Sao Paulo)       Date:  2011       Impact factor: 2.365

3.  A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Authors:  Dorota Monies; Hindi N Alhindi; Mohamed A Almuhaizea; Mohamed Abouelhoda; Anas M Alazami; Ewa Goljan; Banan Alyounes; Dyala Jaroudi; Abdulelah AlIssa; Khalid Alabdulrahman; Shazia Subhani; Mohamed El-Kalioby; Tariq Faquih; Salma M Wakil; Nada A Altassan; Brian F Meyer; Saeed Bohlega
Journal:  Hum Genomics       Date:  2016-09-27       Impact factor: 4.639

4.  Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.

Authors:  Rashna Sam Dastur; Pradnya Satish Gaitonde; Munira Kachwala; Babi R R Nallamilli; Arunkanth Ankala; Satish V Khadilkar; Nalini Atchayaram; N Gayathri; A K Meena; Laura Rufibach; Sarah Shira; Madhuri Hegde
Journal:  Ann Indian Acad Neurol       Date:  2017 Jul-Sep       Impact factor: 1.383

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.