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

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

Abstract 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 va...

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Bibliographic Details
Main Authors: Katelynn M. Wilton, Joel A. Morales‐Rosado, Duygu Selcen, Karthik Muthusamy, Sarah Ewing, Katherine Agre, Katherine Nickels, Eric W. Klee, Mai‐Lan Ho, Eva Morava
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:JIMD Reports
Subjects:
acute disseminated encephalomyelitis
genetic
MICU1
MICU1 deficiency
mitochondria
MPXPS
Online Access:https://doi.org/10.1002/jmd2.12114

Internet

https://doi.org/10.1002/jmd2.12114

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