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A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.

We have identified a new mutation in mtDNA, involving tRNALeu(CUN) in a patient manifesting an isolated skeletal myopathy. This heteroplasmic A-->G transition at position 12320 affects the T psi C loop at a conserved site and was not found in 120 controls. Analysis of cultured fibroblasts, white...

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Bibliografiske detaljer
Main Authors: Weber, K, Wilson, J N, Taylor, L, Brierley, E, Johnson, M A, Turnbull, D M, Bindoff, L A
Format: Artigo
Sprog:Inglês
Udgivet: 1997
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712391/
https://ncbi.nlm.nih.gov/pubmed/9012410
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