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

Intern Med. 2024 Apr 16. doi: 10.2169/internalmedicine.3417-23. Online ahead of print.ABSTRACTX-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.PMID:38631855 | DOI:10.2169/internalmedicine.3417-23

Source: Internal Medicine - April 17, 2024 Category: Internal Medicine Authors: Yosuke Takeuchi Teruaki Masuda Noriyuki Kimura Kaori Sumi Mika Jikumaru Nobuyuki Eura Ichizo Nishino Etsuro Matsubara Source Type: research