Ontology highlight
ABSTRACT:
SUBMITTER: Pfeffer G
PROVIDER: S-EPMC3988992 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Pfeffer Gerald G Sambuughin Nyamkhishig N Olivé Montse M Tyndel Felix F Toro Camilo C Goldfarb Lev G LG Chinnery Patrick F PF
Neuromuscular disorders : NMD 20131211 3
Hereditary myopathy with early respiratory failure is an autosomal dominant myopathy caused by mutations in the 119th fibronectin-3 domain of titin. To date all reported patients with the most common mutation in this domain (p.C30071R) appear to share ancestral disease alleles. We undertook this study of two families with the p.C30071R mutation to determine whether they share the same haplotype as previously reported British families or whether the mutation arose as a de novo event. We sequenced ...[more]