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Article

A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.

Internal medicine (Tokyo, Japan) - 15 May 2022

Sano Yasuteru, Ota Satoko, Oishi Mariko, Honda Masaya, Omoto Masatoshi, Kawai Motoharu, Okubo Mariko, Nishino Ichizo, Kanda Takashi

Abstract excerpt

Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and is considered quite rare. Respiratory insufficiency can be the sole symptom in the disease course. We herein report the first Japanese HMERF patient with a p.P31732L mutation in titin. The patient manifested respiratory failure and mild weakness of the neck flexor muscle at 69 years old and showed fatty...

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Identifiers

PMID: 34670883
DOI: 10.2169/internalmedicine.7733-21
PMCID: PMC9177377

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