眼咽型肌营养不良症：非法裔加拿大人谱系

Oculopharyngeal muscular dystrophy: non-French-Canadian pedigrees.

作者信息

Creel G B, Giuliani M J, Lacomis D, Holbach S M

机构信息

74th Medical Operations Squadron/SGOMU, Neurology Services, Wright-Patterson AFB, Ohio 45433, USA.

出版信息

Muscle Nerve. 1998 Jun;21(6):816-8. doi: 10.1002/(sici)1097-4598(199806)21:6<816::aid-mus19>3.0.co;2-q.

DOI:10.1002/(sici)1097-4598(199806)21:6<816::aid-mus19>3.0.co;2-q

PMID:9585341

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late adult onset, autosomal dominant muscular dystrophy characterized by ptosis and dysphagia. The OPMD gene has been localized to chromosome 14q11.2-q13 in French-Canadian pedigrees. We report 2 non-French-Canadian families with OPMD. Affected ancestors were immigrants to the United States from Italy and Normandy. The Norman pedigree does not share the French-Canadian haplotype. OPMD appears to be a heterogeneous disorder with similar phenotypes, but probably with different gene loci.

摘要

眼咽型肌营养不良症（OPMD）是一种成年后发病的常染色体显性遗传肌营养不良症，其特征为上睑下垂和吞咽困难。在法裔加拿大家系中，OPMD基因已定位到14号染色体的14q11.2-q13区域。我们报告了2个非法裔加拿大家系的OPMD病例。患病祖先分别是从意大利和诺曼底移民到美国的。诺曼家系并不具有法裔加拿大人的单倍型。OPMD似乎是一种具有相似表型，但可能具有不同基因位点的异质性疾病。