Search Results - "Krishnan, K.J"

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    C.O.2 DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance by Krishnan, K.J, Nelson, G, Romero, N.B, Ratnaike, T, Blakely, E.L, Ziyadeh-Isleem, A, Miller, J, Murphy, J.L, Horvath, R, Lochmuller, H, Flanigan, K, Turnbull, D.M, Guicheney, P, Bitoun, M, Taylor, R.W

    Published in Neuromuscular disorders : NMD (01-10-2012)
    “…Abstract Centronuclear myopathy (CNM) is a congenital myopathy characterised by delayed motor milestones, progressive facial weakness, ptosis, ophthalmoplegia…”
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    Do mitochondrial DNA mutations have a role in neurodegenerative disease? by Krishnan, K J, Reeve, A K, Turnbull, D M

    Published in Biochemical Society transactions (01-11-2007)
    “…A decline in mitochondrial function has long been shown to exist in neurodegenerative disease. Whether this decline is a secondary consequence of other factors…”
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    Journal Article