LMNA- associated congenital muscular dystrophy：a case report and literature review

VernacularTitle:LMNA相关的先天性肌营养不良症1例报告并文献复习
Author: Chunhui WAN ; Peiwei ZHAO ; Xin YUE ; Xuelian HE
Publication Type:Journal Article
Keywords: congenital muscular dystrophy; LMNA gene; gene mutation
From: Journal of Clinical Pediatrics 2016;34(8):592-595
CountryChina
Language:Chinese
Abstract: Objectives To explore the clinical features and diagnosis of LMNA-associated congenital muscular dystrophy. Methods The clinical data from a case of muscular dystrophy caused by LMNA gene mutation were retrospectively analyzed. The related literatures were reviewed. Results A 8-month-old female infant suffered from weakness of raising head, eyelid droop, and motor development retardtion. LMNA gene was sequenced for the infant, her parents and the older sister. Heterozygous mutation of c. 94_96 del AAG (p. K 32 del) was found in the infant leading to the diagnosis of LMNA- associated congenital muscular dystrophy. No mutation was found in the infant’s parents and her older sister. The literature review showed that all ofLMNA- associated congenital muscular dystrophy patients had LMNA gene mutation, more than 80% patients mainly presented with weakness of raising head and may accompany with weakness of proximal limb, motor development retardation, and weakness of axial muscle. Conclusions Mutation analysis of LMNA gene is conducive to the diagnosis of congenital muscular dystrophy.