ArticleAmerican journal of human genetics1999
Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed.
- Making sense of missense variants in TTN-related congenital myopathies.Acta neuropathologica · 2021Article
- Genetic analysis of sick sinus syndrome in a family harboring compound CACNA1C and TTN mutations.Molecular medicine reports · 2018Article
- Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.Molecular neurobiology · 2016Article
- Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.BMC neurology · 2013Article
- Titin mutation segregates with hereditary myopathy with early respiratory failure.Brain : a journal of neurology · 2012Article
- Muscle giants: molecular scaffolds in sarcomerogenesis.Physiological reviews · 2009Review
- Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone.Genetics in medicine : official journal of the American College of Medical GeneticsArticle
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two Swedish families with autosomal dominant myopathy, who also had proximal weakness, early respiratory failure, and characteristic cytoplasmic bodies in the affected muscle biopsies, were screened for linkage by means of the human genome screening set (Cooperative Human Linkage Center Human Screening Set/Weber version 6). Most chromosome regions were completely excluded by linkage analysis (LOD score <-2). Linkage to the chromosomal region 2q24-q31 was established. A maximum combined two-point LOD score of 4.87 at a recombination fraction of 0 was obtained with marker D2S1245. Haplotype analysis indicated that the gene responsible for the disease is likely to be located in the 17-cM region between markers D2S2384 and D2S364. The affected individuals from these two families share an identical haplotype, which suggests a common origin.
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Registered trials
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