一个患有眼咽型肌营养不良症的保加利亚大家族中独特的PABPN1基因突变。 - Suppr

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Unique PABPN1 gene mutation in a large Bulgarian family with OPMD.

作者信息

Mihaylova V, Müller T, Petrova I, Tournev I, Cherninkova S, Walter M C, Deschauer M

出版信息

J Neurol. 2008 Apr;255(4):609-11. doi: 10.1007/s00415-008-0769-y. Epub 2008 Feb 19.

DOI:10.1007/s00415-008-0769-y

PMID:18274805

Abstract

摘要

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Unique PABPN1 gene mutation in a large Bulgarian family with OPMD.

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本文引用的文献

Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy.

J Neurol. 2006 Jul;253(7):892-5. doi: 10.1007/s00415-006-0126-y. Epub 2006 Apr 20.

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.

Hum Genet. 2005 Mar;116(4):267-71. doi: 10.1007/s00439-004-1235-2. Epub 2005 Jan 12.

[Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].

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N Engl J Med. 1962 Dec 20;267:1267-72. doi: 10.1056/NEJM196212202672501.

Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy.

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Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry.

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