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- Yasuteru Sano, Satoko Ota, Mariko Oishi, Masaya Honda, Masatoshi Omoto, Motoharu Kawai, Mariko Okubo, Ichizo Nishino, and Takashi Kanda.
- Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
- Intern. Med. 2022 May 15; 61 (10): 1587-1592.
AbstractHereditary 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 replacement of the bilateral semitendinosus muscles on muscle imaging. Our case indicates that HMERF with a heterozygous p.P31732L mutation should be included in the differential diagnosis of muscular diseases presenting with early respiratory failure.
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