Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy
Date
2015
Authors
Mordaunt, D.
McIntyre, L.
Salvemini, H.
Ibrahim, A.
Bratkovic, D.
Ketteridge, D.
Scott, H.
Kassahn, K.
Smith, N.
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Journal article
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American Journal of Medical Genetics, Part A, 2015; 167(11):2697-2701
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Abstract
The Mitochondrial tRNALeu (MT-TL1) mutation, m.3243A>G constitutes the commonest identified mitochondrial genome mutation. Characteristically, giving rise to MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes), a phenotypic spectrum associated with this genetic variant is now apparent. We report on the first patient with infantile hemiparesis, without comorbid encephalopathy, attributed to this variant. This further expands the recognized disease spectrum and highlights the need to consider mitochondrial genomic mutations in cases of cryptogenic focal neurological deficit in infancy. The potential for genetic disease modifiers is additionally discussed.
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Copyright 2015 Wiley Periodicals