The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28
| Autor: | Stephan Kemp, Ben C.J. Hamel, B.A. van Oost, J. W. Weber, Pieter A. Bolhuis, Frank Baas, G. W. Hensels, Peter G. Barth, Emiel A. M. Janssen |
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| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 1994 |
| Předmět: |
Adult
Genetic Markers Male Heterozygote congenital hereditary and neonatal diseases and abnormalities Neuromuscular disease X Chromosome Genetic Linkage Muscle Fibers Skeletal Locus (genetics) Biology Microtubules Genetic linkage medicine Humans Genetics (clinical) X chromosome Genetics Infant Newborn Muscle weakness Chromosome Mapping Infant Nucleic Acid Hybridization Neuromuscular Diseases medicine.disease X-linked myotubular myopathy Hypotonia Xq28 Pedigree Neurology Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom DNA Probes |
| Zdroj: | Neuromuscular disorders, 4(5-6), 455-461. Elsevier Limited |
| ISSN: | 0960-8966 |
| Popis: | X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two families with XLMTM. Using 18 markers in the Xq27-Xqter region we found a maximum two-point lod score of Z = 4.00 at theta = 0.00 for the marker II-10 (DXS466). Three recombinations were detected between markers and the disease locus. At the distal side of Xq27.3 a recombination was present in between RNI (DXS369) and VK23b (DXS297), another in between VK23b (DXS297) and II-10 (DXS466), and at the proximal side of Xq28 a recombination in between U6.2 (DXS304) and Cpx67 (DXS134). Combining the results of both families we conclude that XLMTM is located in the 8 Mb(11 cM) region between VK23b (DXS297) and Cpx67 (DXS134). |
| Databáze: | OpenAIRE |
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