Clinical and genetic analysis of 124 Chinese patients with hypomyelinating leukodystrophies

Congenital hypomyelinating leukodystrophies(HLDs) is a spectrum of genetic disorders with deficiency of myelin substantial deposit in brain white matter, causing development delay, nystagmus and/or other manifestations. The brain MRI will show hypomyelination change. Until now more than 10 disorders...Congenital hypomyelinating leukodystrophies(HLDs) is a spectrum of genetic disorders with deficiency of myelin substantial deposit in brain white matter, causing development delay, nystagmus and/or other manifestations. The brain MRI will show hypomyelination change. Until now more than 10 disorders...中国神经科学学会