Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Multiple Mitochondrial Dysfunction Syndrome (MMDS) comprises a group of severe autosomal recessive diseases with onset in early infancy and characterized by a systemic disorder of energy metabolism, resulting in weakness, respiratory failure, lack of neurological development, lactic acidosis and ear...

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Bibliographic Details
Main Authors: Federica eInvernizzi, Anna eArdissone, Eleonora eLamantea, Barbara eGaravaglia, Massimo eZeviani, Laura eFarina, Daniele eGhezzi, Isabella eMoroni
Format: Article
Language:English
Published: Frontiers Media S.A. 2014-11-01
Series:Frontiers in Genetics
Subjects:
brain MRI
leukoencephalopathy
mitochondrial disorders
Multiple Mitochondrial Dysfunction Syndrome
MMDS1
NFU1
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00412/full

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http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00412/full

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