Clinical, physiological, and histological features in a kindred with the T3271C melas mutation

Muscle & Nerve
Mark A TarnopolskyB H Robinson

Abstract

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.

References

Apr 1, 1992·Annals of Neurology·E CiafaloniC Garcia
Jan 1, 1995·Muscle & Nerve. Supplement·Y Goto
Aug 1, 1994·Biochemical Medicine and Metabolic Biology·S K MarieS Horai

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Citations

May 23, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Mark A TarnopolskyBekim Sadikovic
Jul 12, 2005·Pediatric Research·Laura StenqvistHelena Pihko
Dec 15, 2005·American Journal of Medical Genetics. Part a·Elizabeth McPherson, Carrie Zabel
Dec 16, 1998·Current Opinion in Neurology·E A Shoubridge
Apr 24, 2001·Muscle & Nerve·M A TarnopolskyT Wallimann
May 31, 2002·Journal of Endocrinological Investigation·J A MaassenH H J P Lemkes
Mar 30, 2005·Journal of Child Neurology·Stacey K H TaySalvatore DiMauro
Mar 26, 2005·Current Opinion in Neurology·E Bernd Ringelstein, Darius G Nabavi
May 30, 2001·Advanced Drug Delivery Reviews·T Pulkes, M G Hanna
Mar 17, 1999·Biochimica Et Biophysica Acta·J A Morgan-Hughes, M G Hanna
Feb 26, 2008·Neurologic Clinics·Michaela C Devries, Mark A Tarnopolsky
Dec 17, 2008·Physical Medicine and Rehabilitation Clinics of North America·Michaela C Devries, Mark A Tarnopolsky

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