ArticleAmerican journal of human genetics1995
Autosomal dominant distal myopathy: linkage to chromosome 14.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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
32 citing papers in PubMed, 143 citations in OpenAlex.
- Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.The Journal of clinical investigation · 2024Article
- MYH7 in cardiomyopathy and skeletal muscle myopathy.Molecular and cellular biochemistry · 2024Review
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Tumor suppressive function of Matrin 3 in the basal-like breast cancer.Biological research · 2020Article
- Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in theActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Article
- GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.Frontiers in neurology · 2018Article
- Congenital myopathies: clinical phenotypes and new diagnostic tools.Italian journal of pediatrics · 2017Review
- Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.BMC medical genetics · 2016Article
- MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Orphanet journal of rare diseases · 2016Article
- A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.Human genome variation · 2015Article
- Laing distal myopathy pathologically resembling inclusion body myositis.Annals of clinical and translational neurology · 2014Article
- Distal myopathies.Neurologic clinics · 2014Review
- Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.Human mutation · 2014Article
- Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.European journal of human genetics : EJHG · 2014Article
- Distal myopathies.Current neurology and neuroscience reports · 2014Review
- Distal myopathies: from clinical classification to molecular understanding.Journal of neural transmission (Vienna, Austria : 1996) · 2013Review
- Myosinopathies: pathology and mechanisms.Acta neuropathologica · 2013Review
- A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.BMC genetics · 2012Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals. The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902. A search for linkage was conducted using microsatellite, VNTR, and RFLP markers. In total, 92 markers on all 22 autosomes were run. Positive linkage was obtained with 14 of 15 markers tested on chromosome 14, with little indication of linkage elsewhere in the genome. Maximum two-point LOD scores of 2.60 at recombination fraction .00 were obtained for the markers MYH7 and D14S64--the family structure precludes a two-point LOD score > or = 3. Recombinations with D14S72 and D14S49 indicate that this distal myopathy locus, MPD1, should lie between these markers. A multipoint analysis assuming 100% penetrance and using the markers D14S72, D14S50, MYH7, D14S64, D14S54, and D14S49 gave a LOD score of exactly 3 at MYH7. Analysis at a penetrance of 80% gave a LOD score of 2.8 at this marker. This probable localization of a gene for distal myopathy, MPD1, on chromosome 14 should allow other investigators studying distal myopathy families to test this region for linkage in other types of the disease, to confirm linkage or to demonstrate the likely genetic heterogeneity.
Indexed as
Identifiers
7847377PMC1801149W1908481805What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.