Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G

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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Francis, Amirtharaj, Sunitha, Balaraju, Vinodh, Kandavalli, Polavarapu, Kiran, Katkam, Shiva Krishna, Modi, Sailesh, Bharath, M. M. Srinivas, Gayathri, Narayanappa, Nalini, Atchayaram, Thangaraj, Kumarasamy
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2014
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4108395/
https://ncbi.nlm.nih.gov/pubmed/25055047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0102763
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