Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review.
Hui-Chi LinChin-Hsien LinPei-Lung ChenShih-Jung ChengPei-Hao ChenPublished in: BMC neurology (2017)
This is the first report of the occurrence of the MAPT p.R5H mutation in the Taiwanese population. Our findings extend the current knowledge of phenotypic heterogeneity among family members carrying the MAPT p.R5H mutation.
Keyphrases