Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1

Mitochondria play a variety of roles in the cell, far beyond their widely recognized role in ATP generation. One such role is the regulation and sequestration of calcium, which is done with the help of the mitochondrial calcium uniporter (MCU) and its regulators, MICU1 and MICU2. Genetic variations...

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Detalles Bibliográficos
Autores principales: Wilton, Katelynn M., Morales‐Rosado, Joel A., Selcen, Duygu, Muthusamy, Karthik, Ewing, Sarah, Agre, Katherine, Nickels, Katherine, Klee, Eric W., Ho, Mai‐Lan, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203647/
https://www.ncbi.nlm.nih.gov/pubmed/32395406
http://dx.doi.org/10.1002/jmd2.12114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203647/
https://www.ncbi.nlm.nih.gov/pubmed/32395406
http://dx.doi.org/10.1002/jmd2.12114

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