Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

BACKGROUND: The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The...

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Detalles Bibliográficos
Autores principales: Avila-Smirnow, Daniela, Boutron, Audrey, Beytía-Reyes, María de Los Ángeles, Contreras-Olea, Oscar, Caicedo-Feijoo, Alfredo, Gejman-Enríquez, Roger, Escobar-Henríquez, Raúl, Förster-Mujica, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112146/
https://www.ncbi.nlm.nih.gov/pubmed/30149802
http://dx.doi.org/10.1186/s13256-018-1702-3

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