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Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy

Mainak Bardhan,Kiran Polavarapu,Dipti Baskar,Veeramani Preethish-Kumar,Seena Vengalil,Saraswati Nashi,Valakunja H. Ganaraja,Dinesh Sharma,Karthik Kulanthaivelu,B. N. Nandeesh,Atchayaram Nalini

GLOBAL MEDICAL GENETICS（2024）

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Key words
VMA21-related myopathy,autophagy,muscle MRI
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