Cargando…
Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6
Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family hist...
Autores principales: | Brum, Marisa, Semedo, Cristina, Guerreiro, Rui, Pinto Marques, José |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274829/ https://www.ncbi.nlm.nih.gov/pubmed/25548692 http://dx.doi.org/10.1155/2014/701761 |
Ejemplares similares
-
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
por: Piekutowska-Abramczuk, Dorota, et al.
Publicado: (2017) -
Hybrid Mass Spectrometry Approaches to Determine How L-Histidine Feedback Regulates the Enzyzme MtATP-Phosphoribosyltransferase
por: Pacholarz, Kamila J., et al.
Publicado: (2017) -
Antithrombotic Regimens for Patients Taking Oral Anticoagulation After Coronary Intervention: A Meta‐analysis of 16 Clinical Trials and 9185 Patients
por: Gao, Xiao‐Fei, et al.
Publicado: (2015) -
Dominant Heterogeneity of Upper and Lower Motor Neuron Degeneration to Motor Manifestation of Involved Region in Amyotrophic Lateral Sclerosis
por: Jin, Jiaoting, et al.
Publicado: (2019) -
Phenotypic heterogeneity of astrocytes in motor neuron disease
por: Trias, Emiliano, et al.
Publicado: (2018)