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

• المؤلفون الرئيسيون: Guilian Sun (مؤلف), Fang Yao (مؤلف), Zhuoling Tian (مؤلف), Tianjiao Ma (مؤلف), Zhiliang Yang (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2018-10-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

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...