Adult ‐onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report

ConclusionsThis patient with a homozygousGALC mutation expands the clinical presentation and characteristics of adult ‐onset KD, as indicated by grey matter atrophy without abnormal white matter signals.

Source: Molecular Genetics & Genomic Medicine - July 16, 2020 Category: Genetics & Stem Cells Authors: Zhou Xia, Yin Wenwen, Yu Xianfeng, Hu Panpan, Zhu Xiaoqun, Sun Zhongwu Tags: CLINICAL REPORT Source Type: research