Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
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.
Goh
Khean Jin
KJ
Division of Neurology, Department of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia. gohkj@ummc.edu.my
Wong
Kum Thong
KT
Nishino
Ichizo
I
Minami
Narihiro
N
Nonaka
Ikuya
I
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
D039103:Poly(A)-Binding Protein II