MELAS syndrome involving a mother and two children
P. F. Driscoll, P. D. Larsen and A. B. Gruber
Three familial cases of MELAS (mitochondrial encephalomyopathy with lactic
acidosis and stroke) have been reported. We describe a family with four
normal sons and an affected mother, son, and daughter. Although
mitochondrial inheritance has been proposed, autosomal and X-linked
dominant patterns are also possible. This family also illustrates the
variability of expression of MELAS. The proband has the full syndrome,
while the mother and daughter manifested less severe findings. All three
did not develop symptoms until adulthood.
