A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report

A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report

Abstract Background Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characterized by seizures, motor impairment, and loss of vision. Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases arising from CLN6 mutations have not been described in China to date. The...

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Bibliographic Details
Main Authors: Guilian Sun, Fang Yao, Zhuoling Tian, Tianjiao Ma, Zhiliang Yang
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Medical Genetics
Subjects:
Neuronal ceroid lipofuscinosis
Neurodegeneration
CLN6
Endoplasmic reticulum
Lysosomal storage disorder
Online Access:http://link.springer.com/article/10.1186/s12881-018-0690-x

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