Beschreibung:
A mitochondrial disorder featuring the triad of chronic progressive , cardiomyopathy () with conduction block (), and . Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
Synonym(s):
Kearns-Sayre-Shy-Daroff-Syndrom /
Kearns-Sayre-Syndrom /