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

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 CLN6 pr...

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Detalles Bibliográficos
Autores principales: Sun, Guilian, Yao, Fang, Tian, Zhuoling, Ma, Tianjiao, Yang, Zhiliang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167792/
https://www.ncbi.nlm.nih.gov/pubmed/30285654
http://dx.doi.org/10.1186/s12881-018-0690-x

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