Tecnologia Genética

Abstrato

Two Novel Mutations in the AGK Gene: Two Case Reports with Sengers Syndrome

Deniz Kor, Berna Seker Yılmaz, Ozden Ozgur Horoz, Gulay Ceylaner, Selcuk Sızmaz, Fadli Demir and Neslihan Onenli Mungan

Mutations in the AGK gene are known to cause Sengers Syndrome, a rare recessive disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance and lactic acidosis with normal mental development. Since the first report in 1975 by Sengers et al. about 50 individuals have been described as having this syndrome. Here we report two novel mutations in the AGK gene in two patients with neonatal Sengers syndrome.