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Article

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.

Muscle & nerve - 1 Jun 2013

Ankala Arunkanth, Kohn Jordan N, Dastur Rashna, Gaitonde Pradnya, Khadilkar Satish V, Hegde Madhuri R

Abstract excerpt

INTRODUCTION: Clinical heterogeneity of limb-girdle muscular dystrophies (LGMDs, 24 known subtypes), which includes overlapping phenotypes and varying ages of onset and morbidity, adds complexity to clinical and molecular diagnoses. METHODS: To diagnose LGMD subtype, protein analysis, using immunohistochemistry (IHC) and immunoblotting, was followed by gene sequencing through a panel approach (simultaneous...

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Source

Identifiers

PMID: 23666804
DOI: 10.1002/mus.23763

Genes

CAPN3

Variants

Provenance

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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