ArticleAmerican journal of human genetics1992
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 70 citations in OpenAlex.
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.Skeletal muscle · 2023Review
- Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.International journal of molecular sciences · 2022Article
- Distal myopathies.Neurologic clinics · 2014Review
- Approach to the diagnosis of congenital myopathies.Neuromuscular disorders : NMD · 2014Article
- The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimization.Frontiers in physiology · 2012Article
- Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.Human molecular genetics · 2011Article
- Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.Human mutation · 2010Article
- Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.Journal of medical genetics · 1997Review
- Investigation of muscle disease.Journal of neurology, neurosurgery, and psychiatry · 1996Review
- Nemaline myopathy: two autopsy reports.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 1995Article
- Exclusion of two candidate loci for autosomal recessive nemaline myopathy.Journal of medical genetics · 1994Article
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
Nemaline myopathy (NEM) is a neuromuscular disorder characterized by the presence, in skeletal muscle, of nemaline rods composed at least in part of alpha-actinin. A candidate gene and linkage approach was used to localize the gene (NEM1) for an autosomal dominant form (MIM 161800) in one large kindred with 10 living affected family members. Markers on chromosome 19 that were linked to the central core disease gene, a marker at the complement 3 locus, and a marker on chromosome 1 at the alpha-actinin locus exclude these three candidate genes. The family was fully informative for APOA2, which is localized to 1q21-q23. NEM1 was assigned to chromosome 1 by close linkage for APOA2, which is localized to 1q21-q23. NEM1 was assigned to chromosome 1 by close linkage to APOA2, with a lod score of 3.8 at a recombination fraction of 0. Recombinants with NGFB (1p13) and AT3 (1q23-25.1) indicate that NEM1 lies between 1p13 and 1q25.1. In total, 47 loci were investigated on chromosomes 1, 2, 4, 5, 7-11, 14, 16, 17, and 19, with no indications of significant linkage other than to markers on chromosome 1.
Indexed as
Identifiers
1347195PMC1684287W1541074080What 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.