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MELAS Syndrome Involving a Mother and Two Children
Paul F. Driscoll, MD;
Paul D. Larsen, MD;
Allen B. Gruber, MD
Arch Neurol. 1987;44(9):971-973.
Abstract
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.
Author Affiliations
From the Departments of Medicine, Division of Neurology (Drs Driscoll, Larsen, and Gruber) and Pediatrics, Division of Neurology (Dr Larsen), The University of Texas Health Science Center, San Antonio.
Footnotes
Accepted for publication May 4, 1987.
Presented in part at the 38th Annual Meeting of the American Academy of Neurology, New Orleans, May 1, 1986.
Reprint requests to Department of Medicine, Division of Neurology, The University of Texas Health Science Center, 7400 Merton Minter, San Antonio, TX 78284 (Dr Driscoll).
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