Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene Full Text
Saudi Journal of Gastroenterology, 07/17/2012
AlSaman A et al. – The authors describe the clinical features, biochemical and molecular results of a Saudi infant with a new mutation of MPV17 and compared the features to those of previously reported cases. They stress the importance of such rare cases particularly in countries with high consanguineous marriage rate.