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

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...

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Autores principales: Sano, Yasuteru, Ota, Satoko, Oishi, Mariko, Honda, Masaya, Omoto, Masatoshi, Kawai, Motoharu, Okubo, Mariko, Nishino, Ichizo, Kanda, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9177377/
https://www.ncbi.nlm.nih.gov/pubmed/34670883
http://dx.doi.org/10.2169/internalmedicine.7733-21

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