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MYOT-related myofibrillar myopathy

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MYOT-related myofibrillar myopathy1

Articles mentioning MYOT-related myofibrillar myopathy

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MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing

bmjcr · abstract · 2026-05-26 · 1 matching annotations

89.1%

…d a heterozygous MYOT c.179C>T (p.Ser60Phe) variant, confirming MYOT-related myofibrillar myopathy. Cardiac evaluation demonstrated mild aortic-root dilatation, m…

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MYOT-related myofibrillar myopathy

Articles mentioning MYOT-related myofibrillar myopathy

MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing