ICNC2018 Abstracts & Symposia Proposals, ICNC 2014

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Phenotype–genotype analysis of Chinese patients with early-onset LMNA-related muscular dystrophy
Hui Xiong

Building: Bourbon Cataratas Convention Centre, Foz do Iguaçu
Room: Cataratas II
Date: 2014-05-08 04:15 PM – 04:30 PM
Last modified: 2014-02-09

Abstract


Objective: This study aimed to analyze the correlation between phenotype and genotype of Chinese patients with early-onset LMNA-related muscular dystrophy.

Methods: The clinical data of 17 Chinese pediatric patients with early-onset LMNA-related muscular dystrophy was collected. Muscle biopsies, and mutation screening using PCR and RT-PCR were performed. Fibroblast culture, immunofluorescence, human embryonic kidney 293 (HEK 293) culture, plasmid construction, plasmid transfection were studied.

Results: Six patients were diagnosed with Emery-Dreifuss muscular dystrophy (EDMD) and eleven were diagnosed with LMNA-associated congenital muscular dystrophy (L-CMD). Four biopsy specimens exhibited inflammatory changes. Abnormal nuclear morphology was observed in both transmission electron microscopy and lamin A/C stain. We identified nine novel and seven known LMNA gene mutations in the 17 patients. Some mutations (c.91G>A, c.94_96delAAG, c.116A>G, c.745C>T, c.746G>A, and c.1580G>C) were well correlated with EDMD or L-CMD.

Conclusions: LMNA-related muscular dystrophy has a common symptom triad of muscle weakness, joint contracture, and cardiac involvement, but the severity of symptoms and disease progression differ greatly. Inflammatory change in biopsied muscle is identified as a characteristic of early-stage L-CMD. Phenotype-genotype analysis determines that some mutations were well correlated with LMNA-related muscular dystrophy.

 


Keywords


LMNA; Early-onset; Emery-Dreifuss muscular dystrophy; LMNA-associated congenital muscular dystrophy

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