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Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.

Neurology India - 1 Jan 2000

Pathak Pankaj, Sharma Mehar C, Sarkar Chitra, Jha Prerana, Suri Vaishali, Mohd Husain, Singh Sumit, Bhatia Rohit, Gulati Sheffali

Abstract excerpt

BACKGROUND: Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutation in the gene encoding for calpain-3 resulting in total or partial loss of protein. Diagnosis of LGMD2A, the most prevalent form of LGMD, is established by analyzing calpain-3 protein deficiency or CAPN3 gene mutation. Since there is no data from India regarding the incidence of LGMD2A, this study was undertaken. AIMS: To study the...

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Source

Identifiers

PMID: 20739790
DOI: 10.4103/0028-3886.68675

Genes

CAPN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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