Article
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
Journal of medical genetics - 1 Sept 1995
Chabás A, Cormand B, Grinberg D, Burguera J M, Balcells S, Merino J L, Mate I, Sobrino J A, Gonzàlez-Duarte R, Vilageliu L
Abstract excerpt
Three sisters suffering from an unusual form of Gaucher's disease are described. These patients had cardiovascular abnormalities consisting of calcification of the ascending aorta and of the aortic and mitral valves. Neurological findings included ophthalmoplegia and saccadic eye movements in two...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Calcinosis
- Cardiomyopathies
- DNA Mutational Analysis
- Exons
- Female
- Gaucher Disease
- Glucosylceramidase
- Homozygote
- Humans