Mammalian mitochondrial DNA (mtDNA) is thought to be strictlymaternally inherited.1,2 Sperm mitochondria disappear in earlyembryogenesis by selective destruction, inactivation, or simpledilution by the vast surplus of oocyte mitochondria.3
Very small amounts of paternally inherited mtDNA have been detectedby the polymerase chain reaction (PCR) in mice after severalgenerations of interspecific backcrosses.4 Studies of such hybridsand of mouse oocytes microinjected with sperm support the hypothesisthat sperm mitochondria are targeted for destruction by nuclear-encodedproteins.5,6,7 We report the case of a 28-year-old man withmitochondrial myopathy due to a novel 2-bp mtDNA deletion inthe ND2. . . [Full Text of this Article]
Case Report
Methods
Results
Discussion
Source Information
From the Department of Clinical Genetics (M.S.) and the Department of Neurology and the Copenhagen Muscle Research Center (J.V.), University Hospital Rigshospitalet, Copenhagen, Denmark.
Address reprint requests to Dr. Schwartz at the Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, Copenhagen DK 2100, Denmark, or at schwartz@rh.dk.
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