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Neurology. 1999 Jan 1;52(1):12-3.
Linkage of proximal myotonic myopathy to chromosome 3q.
Department of Neurology, University of Würzburg, Germany. Kenneth.Ricker@t-online.de
We performed genetic linkage analysis in nine German proximal myotonic myopathy (PROMM) families using DNA-markers D3S1541 and D3S1589 from the region of the recently discovered gene locus of myotonic dystrophy type 2 (DM2) on chromosome 3q. Two-point analysis supplied an lod score of 5.9. We conclude that a gene causing PROMM is located on chromosome 3q. PROMM and DM2 may be allelic disorders or may be caused by closely linked genes.
PMID: 9921867 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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ReviewMyotonic dystrophy: RNA pathogenesis comes into focus.
Ranum LP, Day JW.
Am J Hum Genet. 2004 May; 74(5):793-804. Epub 2004 Apr 2.
[Am J Hum Genet. 2004]
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Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, et al.
Am J Hum Genet. 2003 Oct; 73(4):835-48. Epub 2003 Sep 10.
[Am J Hum Genet. 2003]
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Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.
Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS.
EMBO J. 2000 Sep 1; 19(17):4439-48.
[EMBO J. 2000]