Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
Saudi Journal of Gastroenterology [The]. 2012; 18 (4): 285-289
in English
| IMEMR
| ID: emr-132552
ABSTRACT
Mitochondrial DNA depletion syndromes [MDSs] are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We 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. We stress the importance of such rare cases particularly in countries with high consanguineous marriage rate
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
DNA, Mitochondrial
/
Mitochondrial Proteins
/
Genes, Recessive
/
Mutation
Type of study:
Case report
Limits:
Humans
/
Male
Language:
English
Journal:
Saudi J. Gastroenterol.
Year:
2012
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