N Engl J Med. 2007 Apr 26;356(17):1707-9.
A lethal defect of mitochondrial and peroxisomal fission.
Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV.
girl with microcephaly, abnormal brain development, optic atrophy and hypoplasia. Biochemical analyses revealed lactic acidosis and an increase in very-long-chain fatty acids.
Because the peroxisomes and mitochondria in fibroblasts from the patient were similar to those in cells overexpressing dominant negative mutant DLP1, they sequenced this gene in their patient and found mutations.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator