title: Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
abstract: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of middle age presenting as progressive dysphagia and eyelid ptosis, due to short expansions of the GCG trinucleotide repeat (from GCG6 to GCG8-13) in the polyadenylate binding-protein nuclear 1 (PABPN1) gene. OPMD is rarely seen in Asians and morphologically and/or genetically confirmed cases have been reported in Japanese kindreds only. We report a 64 year old Chinese-Malaysian woman who presented with progressive dysphagia and bilateral ptosis for about 6 years. Her mother and elder brother (both deceased) were believed to be affected. Muscle histopathology revealed angulated fibres with rimmed vacuoles. Genetic analysis showed repeat expansion in one allele to (GCG)9 while normal in the other (GCG)6. This is the first non-Japanese Asian family with genetically confirmed OPMD.
authors.affiliation: Division of Neurology, Department of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia. gohkj@ummc.edu.my
authors.forename: Khean Jin
authors.initials: KJ
authors.lastname: Goh
authors.forename: Kum Thong
authors.initials: KT
authors.lastname: Wong
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Narihiro
authors.initials: N
authors.lastname: Minami
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D044466:Asian People; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008296:Malaysia / Q000208:ethnology; D008875:Middle Aged; D039141:Muscular Dystrophy, Oculopharyngeal / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D039103:Poly(A)-Binding Protein II / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D039103:Poly(A)-Binding Protein II