Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
نویسندگان
چکیده
منابع مشابه
Titin mutation segregates with hereditary myopathy with early respiratory failure.
In 2001, we described an autosomal dominant myopathy characterized by neuromuscular ventilatory failure in ambulant patients. Here we describe the underlying genetic basis for the disorder, and we define the neuromuscular, respiratory and radiological phenotype in a study of 31 mutation carriers followed for up to 31 years. A combination of genome-wide linkage and whole exome sequencing reveale...
متن کاملHereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic and familial cases and linked to various chromosomal regions. The mutated gene is unknown in most cases. We studied eight individuals, from three apparently unrelated families, with clinical and pathological features of hereditary myopathy with early respiratory failure. The inve...
متن کاملHereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Sir, Hereditary myopathy with early respiratory failure (HMERF) is a neuromuscular disease associated with aggregation of various proteins in muscle fibres and muscle degeneration (Fig. 1) and was described in detail in several families by Edström et al. (1990). Linkage analyses indicated that the disease locus was in the distal part of the long arm of chromosome 2 (Nicolao et al., 1999). Titin...
متن کاملA new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure☆
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...
متن کاملReply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
Sir, The letter from Hedberg et al. (2013) is of great interest because it addresses an important question relating to the genetic aetiology of hereditary myopathy with early respiratory failure (HMERF). The original report by Lange et al. (2005) indicated that HMERF was associated with a heterozygous g.296459C4T/ p.R32450W mutation in the kinase domain of titin (TTN) (using Genebank AJ277892 a...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2013
ISSN: 0022-3050
DOI: 10.1136/jnnp-2012-304728