Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan.
Intern Med. 2022 May 15;61(10):1587-1592. doi: 10.2169/internalmedicine.7733-21. Epub 2021 Oct 19.
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 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.
遗传性肌病伴早期呼吸衰竭（HMERF）由肌联蛋白 A 带 344 外显子突变引起，被认为较为罕见。呼吸功能不全可能是该疾病过程中的唯一症状。本文报道首例日本 HMERF 患者，其肌联蛋白存在 p.P31732L 突变。患者在 69 岁时出现呼吸衰竭和颈部屈肌轻度无力，并在肌肉影像学上显示双侧半腱肌有脂肪替代。本病例表明，存在杂合性 p.P31732L 突变的 HMERF 应纳入以早期呼吸衰竭为表现的肌肉疾病的鉴别诊断中。
