Complex mitochondriopathy associated with 4 mtDNA transitions

In a 33-year-old man, mitochondriopathy was diagnosed upon short stature, a uditory impairment, gynaecomastia, hypogonadism, vertical ophthalmoplegia, cerebral atrophy, leucencephalopathy, cataract, hypertrabeculated left vent ricle, hypothyroidism, diabetes mellitus, glomerulonephritis necessitating kidney transplantation, general wasting, polyneuropathy, abnormally high la ctate levels on exercise, partially reduced cytochrome-c oxidase staining a nd abnormally structured mitochondria on muscle biopsy. Mitochondrial DNA ( mtDNA) analysis revealed 1 novel (A15662G) and 3 known mtDNA transition(s) (T3398C, T4216C, G15812A) affecting the cytb and ND1 gene, respectively. Th ree of the patient's transitions were also detected in blood leukocytes of the patient's maternal grandmother, mother and brother. Mutant mtDNA was he teroplasmic at >75% in the patient's skeletal muscle. Copyright (C) 2000 S. Karger AG, Basel.