New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference16 articles.
1. A rising titan: TTN review and mutation update;Chauveau;Hum Mutat,2014
2. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins;Toro;BMC Neurol,2013
3. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure;Izumi;J Hum Genet,2013
4. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin;Ohlsson;Brain,2012
5. Titin mutation segregates with hereditary myopathy with early respiratory failure;Pfeffer;Brain,2012
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3. A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin;Internal Medicine;2022
4. Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure;Neurological Sciences;2021-11-28
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