Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) w...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Tozawa, Takenori, Nishimura, Akira, Ueno, Tamaki, Shikata, Akane, Taura, Yoshihiro, Yoshida, Takeshi, Nakagawa, Naoko, Wada, Takahito, Kosugi, Shinji, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Chiyonobu, Tomohiro
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7838304/
https://ncbi.nlm.nih.gov/pubmed/33500398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00136-y
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