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

Intern Med. 2022 May 15;61(10):1587-1592. doi: 10.2169/internalmedicine.7733-21. Epub 2021 Oct 19.

Abstract

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.

Keywords: cytoplasmic body; hereditary myopathy with early respiratory failure (HMERF); myofibrillar myopathy; semitendinosus muscle.

MeSH terms

  • Aged
  • Connectin* / genetics
  • Genetic Diseases, Inborn
  • Humans
  • Japan
  • Muscle, Skeletal
  • Muscular Diseases* / complications
  • Muscular Diseases* / diagnostic imaging
  • Muscular Diseases* / genetics
  • Mutation / genetics
  • Respiratory Insufficiency* / diagnosis
  • Respiratory Insufficiency* / genetics

Substances

  • Connectin
  • TTN protein, human

Supplementary concepts

  • Hereditary Myopathy with Early Respiratory Failure