ArticleBMC neurology2013
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
Article in BMC neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 42 citations in OpenAlex.
- Hereditary Myopathy With Early Respiratory Failure Associated With an IncidentalCase reports in genetics · 2026Article
- Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.Journal of neuromuscular diseases · 2025Article
- Genetics of Muscle Stiffness, Muscle Elasticity and Explosive Strength.Journal of human kinetics · 2020Article
- Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.Frontiers in neurology · 2020Article
- Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.Journal of neurology · 2019Article
- Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis.Molecular genetics and metabolism reports · 2018Article
- Thick Filament Protein Network, Functions, and Disease Association.Comprehensive Physiology · 2018Review
- When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.Journal of muscle research and cell motility · 2017Review
- Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia.Hernia : the journal of hernias and abdominal wall surgery · 2017Article
- Increasing Role of Titin Mutations in Neuromuscular Disorders.Journal of neuromuscular diseases · 2016Review
- Diagnosis of muscle diseases presenting with early respiratory failure.Journal of neurology · 2015Review
- Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility.Molecular genetics & genomic medicine · 2014Article
- Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Brain : a journal of neurology · 2014Article
- Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.Neuromuscular disorders : NMD · 2014Article
- Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Brain : a journal of neurology · 2014Article
- A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.Neuromuscular disorders : NMD · 2014Article
- Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.Human molecular genetics · 2014Article
- Titinopathy in a Canadian family sharing the British founder haplotype.The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques · 2014Article
- Myofibrillar myopathies: new developments.Current opinion in neurology · 2013Review
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Authors and funding
10 authors at 7 institutions in 4 countries.
Funding
Abstract
backgroundHereditary myopathy with early respiratory failure (HMERF) was described in several North European families and recently linked to a titin gene (TTN) mutation. We independently studied HMERF-like diseases with the purpose to identify the cause, refine diagnostic criteria, and estimate the frequency of this disease among myopathy patients of various ethnic origins.
methodsWhole exome sequencing analysis was carried out in a large U.S. family that included seven members suffering from skeletal muscle weakness and respiratory failure. Subsequent mutation screening was performed in further 45 unrelated probands with similar phenotypes. Studies included muscle strength evaluation, nerve conduction studies and concentric needle EMG, respiratory function test, cardiologic examination, and muscle biopsy.
resultsA novel TTN p.Gly30150Asp mutation was identified in the highly conserved A-band of titin that co-segregated with the disease in the U.S. family. Screening of 45 probands initially diagnosed as myofibrillar myopathy (MFM) but excluded based on molecular screening for the known MFM genes led to the identification of a previously reported TTN p.Cys30071Arg mutation in one patient. This same mutation was also identified in a patient with suspected HMERF. The p.Gly30150Asp and p.Cys30071Arg mutations are localized to a side chain of fibronectin type III element A150 of the 10th C-zone super-repeat of titin.
conclusionsMissense mutations in TTN are the cause of HMERF in families of diverse origins. A comparison of phenotypic features of HMERF caused by the three known TTN mutations in various populations allowed to emphasize distinct clinical/pathological features that can serve as the basis for diagnosis. The newly identified p.Gly30150Asp and the p.Cys30071Arg mutation are localized to a side chain of fibronectin type III element A150 of the 10th C-zone super-repeat of titin.
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