APHP CHU de Bicetre

Le Kremlin-Bicêtre, France

APHP CHU de Bicetre

Le Kremlin-Bicêtre, France
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Gaignard P.,APHP CHU de Bicetre | Eyer D.,Center Hospitalier Haguenau | Lebigot E.,APHP CHU de Bicetre | Oliveira C.,APHP CHU de Bicetre | And 3 more authors.
Journal of Human Genetics | Year: 2017

An isolated mitochondrial complex III (CIII) defect constitutes a rare cause of mitochondrial disorder. Here we present the second case involving UQCRC2 gene, which encodes core protein 2, one of the 11 structural subunits of CIII. The patient has the same mutation (c.547C>T; p.Arg183Trp) as the first case and presented with neonatal lactic acidosis, hypoglycemia and severe episodes of liver failure. Our study expands the few reported cases of CIII deficiency of nuclear origin. © 2017 The Japan Society of Human Genetics All rights reserved.

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