Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

ABSTRACT:

Objective

Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population.

Methods

119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with follow-up, genetic etiological tests including chromosomal analysis, multiplex ligation probe amplification, Sanger sequencing, targeted enrichment-based next-generation sequencing and whole exome sequencing.

Results

Clinical and genetic features of hypomyelinating disorders were reveal

SUBMITTER: Ji H 

PROVIDER: S-EPMC5815574 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature