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Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser, in the TIMM50 gene, was reported in an abstract form, in three sibs who suffered from intractable epilepsy and developmental delay accompanied by 3‐methylglutaconic aciduria.
We now report on four patients from two unrelated families who presented with...
Carmona‐Rivera C, Hess RA, O’Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M. Novel mutations in the HPS1 gene among Puerto Rican patients.
Hermansky‐Pudlak syndrome (HPS) is a disorder of oculocutaneous albinism (OCA) and platelet storage pool deficiency. Eight different disease‐causing genes have been identified, whose gene products are thought to be involved in the biogenesis of lysosome‐related...
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