X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement.

doi:10.2169/internalmedicine.3417-23

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Article

X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement.

Internal medicine (Tokyo, Japan) - 15 Dec 2024

Takeuchi Yosuke, Masuda Teruaki, Kimura Noriyuki, Sumi Kaori, Jikumaru Mika, Eura Nobuyuki, Nishino Ichizo, Matsubara Etsuro

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a rare genetic disorder caused by X-linked mutations in the MTM1 gene. Although heterozygous females are typically asymptomatic, affected cases have recently been reported. We herein report a case of XLMTM manifesting carrier of the pathogenic c.206dupG mutation in MTM1 with uncommon extramuscular symptoms. She developed gaze nystagmus and cognitive impairment in addition...

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PMID: 38631855
DOI: 10.2169/internalmedicine.3417-23

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