2002
DOI: 10.1002/ana.10182
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Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

Abstract: Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the… Show more

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Cited by 45 publications
(19 citation statements)
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“…We mapped the disease gene to a 10.3 cM region on chromosome 11q13 in this family and showed that the same gene accounts for different clinical forms differing by their severity and age at the onset of the disease. 4 Here, studying a series of 12 additional patients with Chronic DSMA with severe foot and hand interosseous muscle atrophy, predominating to extensor muscles and marked hyperlordosis, we give support to the view that Chronic DSMA gene maps to chromosome 11q13.3 and that Chronic DSMA is probably a genetically homogeneous condition in patients of European ancestry. Using the homozygosity mapping strategy, we were able to narrow the Chronic DSMA region to a 2.6 cM interval, between loci D11S1314 and D11S916.…”
Section: Discussionsupporting
confidence: 60%
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“…We mapped the disease gene to a 10.3 cM region on chromosome 11q13 in this family and showed that the same gene accounts for different clinical forms differing by their severity and age at the onset of the disease. 4 Here, studying a series of 12 additional patients with Chronic DSMA with severe foot and hand interosseous muscle atrophy, predominating to extensor muscles and marked hyperlordosis, we give support to the view that Chronic DSMA gene maps to chromosome 11q13.3 and that Chronic DSMA is probably a genetically homogeneous condition in patients of European ancestry. Using the homozygosity mapping strategy, we were able to narrow the Chronic DSMA region to a 2.6 cM interval, between loci D11S1314 and D11S916.…”
Section: Discussionsupporting
confidence: 60%
“…This chromosomal region is located centromeric to the new refined Chronic DSMA region, suggesting the exclusion of this gene as the disease gene for Chronic DSMA. 4,6 In addition, evidence of two heterozygous IGHMBP2 DNA polymorphisms in the consanguinous individuals (families 1 and 2) strongly supports the absence of linkage to this gene. Our study shows that 38% of Chronic DSMA chromosomes (8/21) derived from a single founder chromosome.…”
Section: Discussionmentioning
confidence: 78%
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“…Recessive disorders in this category are caused by mutations in IGHMBP2, 3 PLEKHG5, 4 or show linkage to 9p21.1-p12 5 or 11q.13. 6 Dominant forms result from mutations in HSPB8, 7 HSPB1, 8 GARS, 9 BSCL2, 10 dynactin-1, 11 or show linkage to 7q34-q36 12 or 2q14. 13 Other non-5q SMAs demonstrate proximal or diffuse weakness and demonstrate autosomal dominant inheritance.…”
mentioning
confidence: 99%