About this Medicine article

Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation by M.A. Tarnopolsky; J. Maguire; T. Myint; D. Applegarth; B.H. Robinson is a Medicine article available to read on EtoBox.

The majority of patients with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) have an A→G mutation at nucleotide 3243 in mitochondrial transfer (t)RNA. To date there have only been 10 reported cases of MELAS syndrome in patients with a T→C mutation at position 3271 of mitochondrial tRNA. Although many of the clinical features are similar between patients with these different mutations, it appears that the age at onset is later for the 3271 mutation. This report provides information from a North American kindred with the 3271 mutation (n = 6 proven; n = 2 probable; n = 3 possible) that adds clinical, physiological, histological, and molecular information to the pool of information on this rare disorder. Many of these features were similar to previous reports of both 3243 and 3271 patients. We conclude that the phenotypic expression of these different mutations are similar, but the age of onset for 3271 patients is later than for 3243 patients.

Author

M.A. Tarnopolsky; J. Maguire; T. Myint; D. Applegarth; B.H. Robinson

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0148-639X)

Published

1998

Language

EN

Field

Medicine (Health Sciences)