Hereditary Myopathy with Early Respiratory Failure

05/01/2013 - "The mutation identified in this study and the three mutations in patients with HMERF were located on the A-band domain of titin, suggesting a strong relationship between mutations in the A-band domain of titin and HMERF. "
05/15/2022 - "We herein report the first Japanese HMERF patient with a p.P31732L mutation in titin. "
05/15/2022 - "A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin."
05/01/2022 - "Mutations located on exon 344 of the titin-A band, the 119th fibronectin-3 domain (FN3 119), are responsible for HMERF. "
01/01/2018 - "The recent availability of massive parallel sequencing techniques, allowing the screening of all coding regions of the genome in undiagnosed patients, together with a growing awareness of the main muscle MRI features of the disease, has led to the discovery of a number of HMERF families and new titin mutations in the last five years. "

05/01/2014 - "Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain."
03/01/2014 - "Sanger sequencing for the two previously described TTN mutations in HMERF (p.C30071R in the 119th fibronectin-3 (FN3) domain, and p.R32450W in the kinase domain) was performed in all patients. "

05/01/2015 - "We sequenced the exon 343 of TTN gene (based on ENST00000589042), which encodes the fibronectin-3 (FN3) 119 domain of the A-band and is a mutational hot spot for HMERF, in genomic DNA from 187 patients from 175 unrelated families who were pathologically diagnosed as MFM. "
03/01/2014 - "DNA samples of all currently known families with HMERF without molecular genetic cause were obtained from 12 families in seven different countries. "

03/01/2014 - "Sanger sequencing for the two previously described TTN mutations in HMERF (p.C30071R in the 119th fibronectin-3 (FN3) domain, and p.R32450W in the kinase domain) was performed in all patients. "