Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myotonic dystrophy (DM) is an autosomal dominant, multisystem disorder and the most common adult form of muscular dystrophy. The age of onset and degree of severity of DM is highly variable. The biochemical defect in DM is unknown. DM was the first autosomal disorder to be localised by genetic linkage to protein markers (Lu, Se, C3), and assigned to chromosome 19. Linkage studies in DM families using RFLPs as polymorphic markers refined the mapping position to 19q13.1-13.2 distal to the BCL3, apoCII, CKM and ERCCI genes. Based on the linkage data, healthy individuals from DM families request a pre-symptomatic test. The information is of use in planning their family, if at high risk they can choose to have prenatal diagnosis. We have studied ten unrelated DM families by linkage analysis. The DNA probes to detect the various RFLPS were either from the vicinity of BCL3, ApoCII, CKMM and ECCRI genes or anonymous DNA probes. Linkage analysis in the DM families enabled us to determine the carrier status of healthy individuals and to perform prenatal diagnosis at a confidence of > 99%. In two families the DM diagnosis was in doubt and we did not include them in the combined analysis. Linkage disequilibrium was noted with two RFLPs pDIO/Pst1 and p37.1/BamH1. Both DNA probes were isolated by Shaw and his group in Cardiff. In six out of eight families, the DM chromosome was associated with allele 3 of pDIO/Pst1 and allele 1 of p37.1/BamH1.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Myotonic dystrophy: molecular analysis of Israeli patients. 785 74

The limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of disorders, different forms of which have been mapped to at least six distinct genetic loci. We have mapped an autosomal recessive form of LGMD (LGMD2B) to chromosome 2p13. Two other conditions have been shown to map to this region or to the homologous region in mouse: a gene for a form of autosomal recessive distal muscular dystrophy, Miyoshi myopathy, shows linkage to the same markers on chromosome 2p as LGMD2B, and an autosomal recessive mouse mutation mnd2, in which there is rapidly progressive paralysis and muscle atrophy, has been mapped to mouse chromosome 6 to a region showing conserved synteny with human chromosome 2p12-p13. We have assembled a 6-cM YAC contig spanning the LGMD2B locus and have mapped seven genes and 13 anonymous polymorphic microsatellites to it. Using haplotype analysis in the linked families, we have narrowed our region of interest to a 0-cM interval between D2S2113 and D2S2112/D2S145, which does not overlap with the critical region for mnd2 in mouse. Use of these most closely linked markers will help to determine the relationship between LGMD2B and Miyoshi myopathy. YACs selected from our contig will be the starting point for the cloning of the LGMD2B gene and thereby establish the biological basis for this form of muscular dystrophy and its relationship with the other limb-girdle muscular dystrophies.
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PMID:Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. 861 8