Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy

Familial cerebellar ataxia with hydrocephalus in Bullmastiffs was described almost 40 years ago as a monogenic autosomal recessive trait. We investigated two young Bullmastiffs showing similar clinical signs. They developed progressive gait and behavioural abnormalities with an onset at around 6 mon...

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Detalles Bibliográficos
Autores principales: Christen, Matthias, Gutierrez‐Quintana, Rodrigo, Vandenberghe, Helene, Kaczmarska, Adriana, Penderis, Jacques, José‐López, Roberto, Rupp, Angie, Griffiths, Ian R., Jagannathan, Vidhya, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826423/
https://www.ncbi.nlm.nih.gov/pubmed/36085405
http://dx.doi.org/10.1111/age.13263

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826423/
https://www.ncbi.nlm.nih.gov/pubmed/36085405
http://dx.doi.org/10.1111/age.13263

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