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

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 clinical sp...

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Detalles Bibliográficos
Autores principales: Koh, Kishin, Takaki, Ryusuke, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876803/
https://www.ncbi.nlm.nih.gov/pubmed/33573605
http://dx.doi.org/10.1186/s12883-021-02087-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876803/
https://www.ncbi.nlm.nih.gov/pubmed/33573605
http://dx.doi.org/10.1186/s12883-021-02087-x

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