Article
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
BMC pediatrics - 26 Jan 2022
Zhang Yu, Yan Hui, Liu Jieyu, Yan Huifang, Ma Yinan, Wei Cuijie, Wang Zhaoxia, Xiong Hui, Chang Xingzhi
Abstract excerpt
BACKGROUND: Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes varies among patients from different ethnic groups. The aim of the present study was to characterize congenital myopathies with infancy onset among patients...
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