Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Multiple Mitochondrial Dysfunction Syndrome (MMDS) comprises a group of severe autosomal recessive diseases with onset in early infancy and characterized by a systemic disorder of energy metabolism, resulting in weakness, respiratory failure, lack of neurological development, lactic acidosis, and ea...

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Detalles Bibliográficos
Autores principales: Invernizzi, Federica, Ardissone, Anna, Lamantea, Eleonora, Garavaglia, Barbara, Zeviani, Massimo, Farina, Laura, Ghezzi, Daniele, Moroni, Isabella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238403/
https://www.ncbi.nlm.nih.gov/pubmed/25477904
http://dx.doi.org/10.3389/fgene.2014.00412

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