Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

Background. Neurofibromatosis type 1 is a multisystemic, progressive disease, with an estimated incidence of 1/3500-2500. Mitochondrial diseases are generally multisystemic and may be present at any age, and the global prevalence is 1/8500. The diagnosis of these disorders is complex because of its...

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Detalles Bibliográficos
Autores principales: Domingues, Sara, Isidoro, Lara, Rocha, Dalila, Sales Marques, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965950/
https://www.ncbi.nlm.nih.gov/pubmed/24711935
http://dx.doi.org/10.1155/2014/423071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965950/
https://www.ncbi.nlm.nih.gov/pubmed/24711935
http://dx.doi.org/10.1155/2014/423071

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