Article
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
American journal of medical genetics. Part A - 1 Jun 2020
Halperin Daniel, Drabkin Max, Wormser Ohad, Yogev Yuval, Dolgin Vadim, Shorer Zamir, Gradstein Libe, Shelef Ilan, Flusser Hagit, Birk Ohad S
Abstract excerpt
COX15 mutations were shown to underlie Leigh syndrome (LS), a progressive subacute necrotizing encephalopathy caused by defects in the mitochondrial respiratory chain. Here, two siblings of consanguineous kindred presented in infancy with a syndrome of hypotonia, nystagmus, psychomotor retardation, and pyramidal signs. Toward the end of their second year, both patients developed progressive quadriparesis,...
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