ArticleMolecular neurobiology2016
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.
Article in Molecular neurobiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.Journal of neuromuscular diseases · 2025Article
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene.International medical case reports journal · 2025Article
- SpliceTransformer predicts tissue-specific splicing linked to human diseases.Nature communications · 2024Article
- Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.Nature genetics · 2024Article
- Article
- Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.Journal of cellular and molecular medicine · 2021Article
- Building a Chinese pan-genome of 486 individuals.Communications biology · 2021Article
- The Sarcomeric Spring Protein Titin: Biophysical Properties, Molecular Mechanisms, and Genetic Mutations Associated with Heart Failure and Cardiomyopathy.Current cardiology reports · 2021Review
- Digenic Variants in theFrontiers in neuroscience · 2021Article
- NovelJournal of ophthalmology · 2021Article
- 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
- HeterozygousBioscience reports · 2019Article
- A novel mutation inIntractable & rare diseases research · 2019Article
- Structural diversity in the atomic resolution 3D fingerprint of the titin M-band segment.PloS one · 2019Article
- Identification of a Heterozygous Mutation in theJournal of ophthalmology · 2019Article
- Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.Journal of cellular and molecular medicine · 2017Article
- A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.Journal of cellular and molecular medicine · 2016Article
- A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease.Neurogenetics · 2016Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of genetic myopathies characterized by progressive proximal pelvic and/or shoulder girdle muscle weakness, with the onset ages ranging from early childhood to late adulthood. The identification of these dystrophies through genetic testing will not only inform long-term prognosis but will also assist in directing care more efficiently, including more frequent cardiorespiratory monitoring and prophylactic treatments. The aim of this study was to identify the responsible gene in a five-generation Chinese Han pedigree with autosomal recessive LGMD. Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. The mutation co-segregated with the disorder in the family and was absent in normal controls. Our discovery broadens the mutation spectrum of the TTN gene associated with LGMD2J.
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