Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.

ABSTRACT:

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 registered at our institution.

Method

This retrospective study enrolled 56 patients based on the pathological and/or genetic diagnosis. Clinical, histopathological and genetic features of the patients were analysed with long-term follow-up.

Results

Twenty-six out of 43 patients who received next-generation sequencing had genetic confirmation, and RYR1 variations (12/2

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC8790871 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature