Mammalian mitochondrial DNA (mtDNA) is considered to be inherited in a strictly maternal manner as sperm mitochondria disappear in early embryogenesis by a process of selective destruction or inactivation. But, in August 22
Schwartz & Vissing examined a 28-year-old patient with severe exercise intolerance and analyzed DNA from his blood, muscle, hair roots and fibroblasts. DNA was also analyzed from the blood of the patient's parents and paternal uncle and from the blood and the quadriceps muscle of the patient's sister. They identified a 2-bp deletion in the mitochondrial
"Because the patient had an isolated myopathy due to a mutation found only in...