Article
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
Neurology - 25 Nov 2003
Houlden H, Lincoln S, Farrer M, Cleland P G, Hardy J, Orrell R W
Abstract excerpt
The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) who has two compound heterozygote mutations of the PANK2 gene. IVS4-1 G>T segregates with the lipid and erythrocyte changes in the mother and sister. No other family members have the lipid, erythrocyte, or clinical abnormalities. The father and two brothers are heterozygous for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.