Analysis of clinical phenotype and genotype of children with centronuclear myopathy and follow-up study / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
; (24): 1476-1479, 2020.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-864249
Responsible library:
WPRO
ABSTRACT
Objective:
To investigate the phenotype, genotype and clinical course of centronuclear myopathy(CNM) in children.Methods:
Clinical data of patients with CNM in the Department of Pediatrics, Peking University First Hospital from October 2008 to December 2018 were collected.The clinical, pathological and genetic data of 9 children with CNM were retrospectively analyzed.The patients were followed up from 8 months to 8.6 years [(4.4±3.1) years].Results:
(1)Clinical phenotype there were 6 males and 3 females with onset age ranging from 1 d to 10 years.Generalized muscle weakness or motor retardation was the main complaint in 8 cases, while elevated muscle enzymes presented in 1 case.Varying degrees of skeletal muscle weakness were noted on examination in all patients, with facial muscle involvement in 4 cases.Six patients were followed up.No deterioration in motor function was noted, while 2 patients had improvement.There was no significant cardiac involvement in all 6 patients.Scoliosis occurred in 4 patients.Restrictive ventilator disorder developed in 2 out of the 5 patients who underwent pulmonary function tests.(2)Genotype 8 out of 9 patients underwent gene test, confirmed gene diagnosis in 4 patients including DNM2 gene (c.1856C>T, c.1893+ 1G>A was novel) de novo heterozygous mutation in 2 cases, RYR1 gene (c.2044C>G, c.6823G>A, both were novel) compound heterozygous mutation in 1 case, and TTN gene (c.107377+ 1G>A, c.2106_2107 insAAGCTGTA was novel) compound heterozygous mutation in 1 case.Conclusions:
The course of centronuclear myopathy is relatively static, with more frequent involvement of facial muscles than myocardium.This study enriched the gene mutation spectrum of centronuclear myopathy (4 novel mutations).
Full text:
Available
Database:
WPRIM (Western Pacific)
Type of study:
Observational study
/
Prognostic study
Language:
Chinese
Journal:
Chinese Journal of Applied Clinical Pediatrics
Year:
2020
Document type:
Article