Clinical, pathological and molecular study of two Chinese families with oculopharyngodistal myopathy

VernacularTitle:眼咽型远端型肌病二家系的临床、病理及分子学特点
Author: Xianghui LU ; Chuanqiang PU ; Xusheng HUANG ; Jiexiao LIU ; Yanling MAO
Publication Type:Journal Article
Keywords: Muscular diseases; Muscular dystrophy,oculopharyngeal; Inclusion bodies; Poly(A) -binding protein Ⅱ
From: Chinese Journal of Neurology 2012;45(8):557-560
CountryChina
Language:Chinese
Abstract: ObjectiveTo investigate the clinical,myopathological and molecular changes in two Chinese families with oculopharyngodistal myopathy ( OPDM).MethodsWe performed muscle biopsy and histopathologic study on the probands of two families,and further examined molecular genetic testing on PABPN1 and GNE gene. Results Family 1 included 3 affected brothers in the same generation and family 2 involved 4 patients in 2 generations. Dysarthria rather than external ophthalmoplegia was the prominent oculopharyngeal symptoms for Chinese patients. No intranuclear inclusions were observed in ultrastructural examination.The number of GCG repeats in the PABPN1 gene was within normal range and no mutations were identified in the GNE gene.ConclusionsFamily 1 is the first publication on autosomal recessive OPDM in China.The age of onset of two families was comparable with Japanese patients and the pattern of muscle involvement was different. OPDM is a distinct phenotypical,histological,and genetic entity.