SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

Abstract Background ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa type 3A (ARCL3A). These diseases exhibit a broad cli...

Full description

Bibliographic Details
Main Authors: Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama
Format: Article
Language:English
Published: BMC 2021-02-01
Series:BMC Neurology
Subjects:
SPG9A
ALDH18A1
de novo mutation
Gonadal mosaicism
Charcot-Marie-tooth disease
PMP22
Online Access:https://doi.org/10.1186/s12883-021-02087-x

Internet

https://doi.org/10.1186/s12883-021-02087-x

Similar Items