VPS13D ‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

ConclusionIn the present study, we found four patients in three Japanese families with novelVPS13D mutations, which may broaden the clinical and genetic findings forVPS13D‐related disorders.

Source: Molecular Genetics & Genomic Medicine - December 25, 2019 Category: Genetics & Stem Cells Authors: Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama Tags: CLINICAL REPORT Source Type: research