Investigation of the mitochondrial genome in patients with atypical motor neuron disease

Catherine Phoenix; Geoffrey A. Taylor; Judith Hartley; Hannah Nixon; Paul G. Ince; Pamela J. Shaw; Douglass M. Turnbull; Robert W. Taylor

doi:10.1007/s00415-006-0399-1

Investigation of the mitochondrial genome in patients with atypical motor neuron disease

Catherine Phoenix, Geoffrey A. Taylor, Judith Hartley, Hannah Nixon, Paul G. Ince, Pamela J. Shaw, Douglass M. Turnbull, Robert W. Taylor

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Abstract

The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.

Original language	English
Pages (from-to)	482-487
Number of pages	7
Journal	Journal of Neurology
Volume	254
Issue number	4
Early online date	31 Mar 2007
DOIs	https://doi.org/10.1007/s00415-006-0399-1
Publication status	Published - 1 Apr 2007

Keywords

motor neuron disease
mitochondrial DNA
mutation
pathogenicity
genome sequencing

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title = "Investigation of the mitochondrial genome in patients with atypical motor neuron disease",

abstract = "The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.",

keywords = "motor neuron disease, mitochondrial DNA, mutation, pathogenicity, genome sequencing",

author = "Catherine Phoenix and Taylor, {Geoffrey A.} and Judith Hartley and Hannah Nixon and Ince, {Paul G.} and Shaw, {Pamela J.} and Turnbull, {Douglass M.} and Taylor, {Robert W.}",

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AU - Phoenix, Catherine

AU - Taylor, Geoffrey A.

AU - Hartley, Judith

AU - Nixon, Hannah

AU - Ince, Paul G.

AU - Shaw, Pamela J.

AU - Turnbull, Douglass M.

AU - Taylor, Robert W.

PY - 2007/4/1

Y1 - 2007/4/1

N2 - The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.

AB - The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.

KW - motor neuron disease

KW - mitochondrial DNA

KW - mutation

KW - pathogenicity

KW - genome sequencing

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DO - 10.1007/s00415-006-0399-1

M3 - Article

SN - 0340-5354

VL - 254

SP - 482

EP - 487

JO - Journal of Neurology

JF - Journal of Neurology

IS - 4

ER -

Investigation of the mitochondrial genome in patients with atypical motor neuron disease

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