ArticleJournal of neurology2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Article in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 51 citations in OpenAlex.
- Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.Annals of clinical and translational neurology · 2026Article
- Mending the Achilles heels of titin in cardiac and musculoskeletal disease.Biophysical reviews · 2026Review
- Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.Journal of neuromuscular diseases · 2025Article
- Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies.European journal of neurology · 2025Article
- Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.Human molecular genetics · 2024Article
- Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.BMC neurology · 2024Article
- Identification of four TTN variants in three families with fetal akinesia deformation sequence.BMC medical genomics · 2024Article
- Titin copy number variations associated with dominant inherited phenotypes.Journal of medical genetics · 2024Article
- Genetic testing in monogenic early-onset atrial fibrillation.European journal of human genetics : EJHG · 2023Article
- Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.Frontiers in neurology · 2023Article
- Use of animal models to understand titin physiology and pathology.Journal of cellular and molecular medicine · 2022Review
- A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.Internal medicine (Tokyo, Japan) · 2022Article
- Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- A NovelAnnals of laboratory medicine · 2021Article
- Novel dominant distal titinopathy phenotype associated with copy number variation.Annals of clinical and translational neurology · 2021Article
- Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant inClinical case reports · 2021Article
- Making sense of missense variants in TTN-related congenital myopathies.Acta neuropathologica · 2021Article
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Genotype-phenotype correlations in recessive titinopathies.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Titinopathy, an atypical respiratory failure.BMJ case reports · 2020Article
Corrections and comments
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Authors and funding
25 authors at 17 institutions in 12 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveHereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.
methodsAltogether 12 new families with 19 affected patients and diverse nationalities were studied. Most of the patients were investigated using targeted next-generation sequencing; Sanger sequencing was applied in some of the patients and available family members. Histological data and muscle MRI findings were evaluated.
resultsThree families had several family members studied while the rest were single patients. Most patients had distal and proximal muscle weakness together with respiratory insufficiency. Five heterozygous TTN A-band mutations were identified of which two were novel. Also with the novel mutations the muscle pathology and imaging findings were compatible with the previous reports of HMERF.
conclusionsOur collection of 12 new families expands mutational spectrum with two new mutations identified. HMERF is not that rare and can be found worldwide, but maybe underdiagnosed. Diagnostic process seems to be complex as this study shows with mostly single patients without clear dominant family history.
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