Three siblings with genetically assessed cerebral autosomal dominant arteriopathy with subcortical infarets 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.
|Number of pages||4|
|Publication status||Published - Aug 27 2002|
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