Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort

GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort. However, the underlying role of this mutation in pathogenesis remains largely unknown. Thus, in this study,...

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Bibliographic Details
Main Authors: Attri Shivangi, Sharma Vikas, Kumar Amit, Verma Chaitenya, Gahlawat Suresh Kumar
Format: article
Language:EN
Published: De Gruyter 2021
Subjects:
gne
R
Online Access:https://doaj.org/article/3551ad28983a4a1ab38e7f374d695949
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