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Article

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.

PloS one - 1 Jan 2014

Francis Amirtharaj, Sunitha Balaraju, Vinodh Kandavalli, Polavarapu Kiran, Katkam Shiva Krishna, Modi Sailesh, Bharath M M Srinivas, Gayathri Narayanappa, Nalini Atchayaram, Thangaraj Kumarasamy

Abstract excerpt

TCAP encoded telethonin is a 19 kDa protein, which plays an important role in anchoring titin in Z disc of the sarcomere, and is known to cause LGMD2G, a rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. A total of 300 individuals with ARLGMD were recruited for this study. Among these we identified 8 clinically well characterised LGMD2G cases...

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Identifiers

PMID: 25055047
DOI: 10.1371/journal.pone.0102763
PMCID: PMC4108395

Genes

TCAP

Variants

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

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