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

Overview

Journal Intern Med

Specialty General Medicine

Date 2024 Apr 17

PMID 38631855

Authors

Yosuke Takeuchi

Teruaki Masuda

Noriyuki Kimura

Kaori Sumi

Mika Jikumaru

Nobuyuki Eura

Ichizo Nishino

Etsuro Matsubara

Affiliations

Soon will be listed here.

Abstract

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 to muscle weakness. Electrophysiological studies and brain magnetic resonance imaging indicated the involvement of the central and peripheral nervous systems. XLMTM manifesting carriers may have a wider spectrum of clinical phenotypes than currently assumed. Appropriate follow-up of extramuscular and conventional muscular manifestations is important in such cases.

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