| Literature DB >> 12196662 |
A Malandrini1, F Albani, S Palmeri, F Fattapposta, S Gambelli, G Berti, A Bracco, A Tammaro, S Calzavara, M Villanova, M Ferrari, A Rossi, P Carrera.
Abstract
Three siblings with genetically assessed cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with core-like lesions and mitochondrial abnormalities in muscles are described. Involvement of the Ryanodine receptor 1 gene was excluded. In the current cases, the relation between molecular genetic lesion and muscle fiber abnormalities remains to be determined, but the Notch3 gene may influence mitochondrial metabolism.Entities:
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Year: 2002 PMID： 12196662 DOI： 10.1212/wnl.59.4.617
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910