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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
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 |
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