Cargando…
Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene
BACKGROUND: Behr’s syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties. OBJECTIVE: Here we describe 4 patients...
Autores principales: | Pyle, Angela, Ramesh, Venkateswaran, Bartsakoulia, Marina, Boczonadi, Veronika, Gomez-Duran, Aurora, Herczegfalvi, Agnes, Blakely, Emma L., Smertenko, Tania, Duff, Jennifer, Eglon, Gail, Moore, David, Yu-Wai-Man, Patrick, Douroudis, Konstantinos, Santibanez-Koref, Mauro, Griffin, Helen, Lochmüller, Hanns, Karcagi, Veronika, Taylor, Robert W., Chinnery, Patrick F., Horvath, Rita |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568311/ https://www.ncbi.nlm.nih.gov/pubmed/26380172 http://dx.doi.org/10.3233/JND-140003 |
Ejemplares similares
-
Exome sequencing in undiagnosed inherited and sporadic ataxias
por: Pyle, Angela, et al.
Publicado: (2015) -
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
por: McMacken, Grace, et al.
Publicado: (2020) -
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia
por: Keogh, M. J., et al.
Publicado: (2015) -
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
por: Bartsakoulia, Marina, et al.
Publicado: (2018) -
Reply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2015)