Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

OBJECTIVE: To define the mechanism responsible for fatigue, lethargy, and weakness in 2 cousins who had a normal muscle biopsy. METHODS: Exome sequencing, long-range PCR, and Sanger sequencing to identify the pathogenic mutation. Functional analysis in the patient fibroblasts included oxygen consump...

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Detalles Bibliográficos
Autores principales: Lewis-Smith, David, Kamer, Kimberli J., Griffin, Helen, Childs, Anne-Marie, Pysden, Karen, Titov, Denis, Duff, Jennifer, Pyle, Angela, Taylor, Robert W., Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Mootha, Vamsi K., Chinnery, Patrick F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830195/
https://www.ncbi.nlm.nih.gov/pubmed/27123478
http://dx.doi.org/10.1212/NXG.0000000000000059

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830195/
https://www.ncbi.nlm.nih.gov/pubmed/27123478
http://dx.doi.org/10.1212/NXG.0000000000000059

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