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Li-Jun Chen

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Case report Open access Oct 2026

A Novel De Novo MTM1 Insertion Frameshift Variant Causes X‐Linked Myotubular Myopathy in a Chinese Female

ABSTRACT Background MTM1‐related X‐linked myotubular myopathy (XLMTM) typically affects males; however, symptomatic female carriers may occur. Methods We evaluated a 24‐year‐old woman with infantile hypotonia followed by slowly progressive, asymmetric proximal weakness with facial and ocular involvement. Clinical asses...

Li-Jun Chen, Ying-Xiao Bao, Gong-Lu Liu · 0 citations

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