Diagnosis A Stroke of Luck - Diagnosis Mitochondrial myopathy Discussion Mitochondrial DNA encodes for 13 respiratory chain enzyme subunits. Mitochondriopathies are heterogeneous in their m olecular pathogenesis and in their clinical presentations. Defects, often present in the form of point mutations, lead to mitochondrial dysfunction which may present with neurological symptoms. Patients present with a history of stunted growth and stroke-like episodes. Muscular weakness may not be manifest.
Lactic acidosis can be demonstrate d biochemically.
Accumulations of abnormal mitochondria with aberrant cristal architectural an d paracrystalline inclusions can be appreciated on ultrastructural exam. J Child Neurol. De Vivo DC, The expanding clinical spectrum of mitochondrial diseases.