Cited by 1,765Muscle Physiology and DisordersNeurogenetic and Muscular Disorders ResearchGenomics and Rare Diseases

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X chromosome-linked muscular dystrophy (mdx) in the mouse

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Bulfield, G, Siller, W G, Wight, P A, Moore, K J·1984·Proceedings of the National Academy of Sciences

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Abstract

An X chromosome-linked mouse mutant (gene symbol, mdx) has been found that has elevated plasma levels of muscle creatine kinase and pyruvate kinase and exhibits histological lesions characteristic of muscular dystrophy. The mutants show mild clinical symptoms and are viable and fertile. Linkage analysis with four X chromosome loci indicates that mdx maps in the Hq Bpa region of the mouse X chromosome. This gives a gene order of mdx-Tfm-Pgk-1-Ags, the same as for the equivalent genes on the human X chromosome.

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Authors: Bulfield, G., Siller, W. G., Wight, P. A., & Moore, K. J.
ORCID: Wight, P A
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 1984-02
Volume: 81
Issue: 4
Pages: 1189-1192
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.81.4.1189
PMC: PMC344791
OpenAlex: W2070936696
Cited by: 1,765
References: 17
Citations by year: 2026: 24 · 2025: 46 · 2024: 47 · 2023: 56 · 2022: 54 · 2021: 60 · 2020: 65 · 2019: 38 · 2018: 68 · 2017: 60 · 2016: 54 · 2015: 78 · 2014: 79 · 2013: 58 · 2012: 65
FWCI: 3.64
Type: journal article
Language: en
Open access: green
europepmc.org
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: X-linked muscular dystrophy, Duchenne muscular dystrophy, muscle creatine kinase, pyruvate kinase, X chromosome mapping, gene order
MeSH terms: Animals, Crosses, Genetic, Female, Genetic Linkage, Male, Mice, Inbred C57BL, Mice, Mutant Strains, Muscles, Muscular Dystrophy, Animal, Mutation, Pyruvate Kinase, X Chromosome, Mice

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X chromosome-linked muscular dystrophy (mdx) in the mouse

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