ArticleAmerican journal of human genetics1998
Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 90 citations in OpenAlex.
- Taking on the Titin: Muscle imaging as a diagnostic marker of biallelicJournal of neuromuscular diseases · 2024Article
- Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.Journal of molecular medicine (Berlin, Germany) · 2018Review
- Role of titin in cardiomyopathy: from DNA variants to patient stratification.Nature reviews. Cardiology · 2018Review
- Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.Neurology · 2016Article
- Distal myopathies.Current neurology and neuroscience reports · 2014Review
- Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Neurology · 2013Article
- Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.Brain : a journal of neurology · 2010Article
- Muscle giants: molecular scaffolds in sarcomerogenesis.Physiological reviews · 2009Review
- Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.Human molecular genetics · 2008Article
- The Finnish Disease Heritage III: the individual diseases.Human genetics · 2003Review
- Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.American journal of human genetics · 2002Article
- Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.American journal of human genetics · 2000Article
- Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.American journal of human genetics · 1999Article
- Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.American journal of human genetics · 1999Article
- Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.American journal of human genetics · 1998Article
- Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tibial muscular dystrophy (TMD) is a rare autosomal dominant distal myopathy with late adult onset. The phenotype is relatively mild: muscle weakness manifests in the patient's early 40s and remains confined to the tibial anterior muscles. Histopathological changes in muscle are compatible with muscular dystrophy, with the exception that rimmed vacuoles are a rather common finding. We performed a genomewide scan, with 279 highly polymorphic Cooperative Human Linkage Center microsatellite markers, on 11 affected individuals of one Finnish TMD family. The only evidence for linkage emerged from markers in a 43-cM region on chromosome 2q. In further linkage analyses, which included three other Finnish TMD families and which used a denser set of markers, a maximum two-point LOD score of 10.14 (recombination fraction of .05) was obtained with marker D2S364. Multipoint likelihood calculations, combined with the haplotype and recombination analyses, restricted the TMD locus to an approximately 1-cM critical chromosomal region without any evidence of heterogeneity. Since all the affecteds share one core haplotype, the dominance of one ancestor mutation is obvious in the Finnish TMD families. The disease locus that was found represents a novel muscular dystrophy locus, providing evidence for the involvement of one additional gene in the distal myopathy group of muscle disorders.
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