MLIP-Associated Myopathy: A Case Report and Review of the Literature.

Journal of neuromuscular diseases（2023）

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摘要

This report reviews and extends the clinical features of a novel myopathy caused by biallelic pathogenic variants in the MLIP gene.

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关键词

MLIP,cardiomyopathy,hyperCKemia,myopathy,rhabdomyolysis

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