De novo mtDNA point mutations are common and have a low recurrence risk

Suzanne C. E. H. Sallevelt; Christine E. M. de Die-Smulders; Alexandra T. M. Hendrickx; Debby M. E. I. Hellebrekers; Irenaeus F. M. de Coo; Charlotte L. Alston; Charlotte Knowles; Robert W. Taylor; Robert McFarland; Hubert J. M. Smeets

doi:10.1136/jmedgenet-2016-103876

De novo mtDNA point mutations are common and have a low recurrence risk

Suzanne C. E. H. Sallevelt^*, Christine E. M. de Die-Smulders, Alexandra T. M. Hendrickx, Debby M. E. I. Hellebrekers, Irenaeus F. M. de Coo, Charlotte L. Alston, Charlotte Knowles, Robert W. Taylor, Robert McFarland, Hubert J. M. Smeets

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	114-124
Number of pages	11
Journal	Journal of Medical Genetics
Volume	54
Issue number	2
DOIs	https://doi.org/10.1136/jmedgenet-2016-103876
Publication status	Published - Feb 2017

Keywords

mDNA mutations
de novo
prenatal diagnosis (PND)
genetic counselling
CYTOCHROME-B GENE
MITOCHONDRIAL-DNA MUTATION
COMPLEX-III DEFICIENCY
STOP-CODON MUTATION
PROGRESSIVE EXERCISE INTOLERANCE
HUMAN EMBRYOFETAL DEVELOPMENT
HEREDITARY OPTIC NEUROPATHY
OXIDASE SUBUNIT-II
G-GREATER-THAN
LEIGH-SYNDROME

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10.1136/jmedgenet-2016-103876

Cite this

Sallevelt, S. C. E. H., de Die-Smulders, C. E. M., Hendrickx, A. T. M., Hellebrekers, D. M. E. I., de Coo, I. F. M., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R., & Smeets, H. J. M. (2017). De novo mtDNA point mutations are common and have a low recurrence risk. Journal of Medical Genetics, 54(2), 114-124. https://doi.org/10.1136/jmedgenet-2016-103876

Sallevelt, Suzanne C. E. H. ; de Die-Smulders, Christine E. M. ; Hendrickx, Alexandra T. M. ; Hellebrekers, Debby M. E. I. ; de Coo, Irenaeus F. M. ; Alston, Charlotte L. ; Knowles, Charlotte ; Taylor, Robert W. ; McFarland, Robert ; Smeets, Hubert J. M. / De novo mtDNA point mutations are common and have a low recurrence risk. In: Journal of Medical Genetics. 2017 ; Vol. 54, No. 2. pp. 114-124.

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title = "De novo mtDNA point mutations are common and have a low recurrence risk",

keywords = "mDNA mutations, de novo, prenatal diagnosis (PND), genetic counselling, CYTOCHROME-B GENE, MITOCHONDRIAL-DNA MUTATION, COMPLEX-III DEFICIENCY, STOP-CODON MUTATION, PROGRESSIVE EXERCISE INTOLERANCE, HUMAN EMBRYOFETAL DEVELOPMENT, HEREDITARY OPTIC NEUROPATHY, OXIDASE SUBUNIT-II, G-GREATER-THAN, LEIGH-SYNDROME",

author = "Sallevelt, {Suzanne C. E. H.} and {de Die-Smulders}, {Christine E. M.} and Hendrickx, {Alexandra T. M.} and Hellebrekers, {Debby M. E. I.} and {de Coo}, {Irenaeus F. M.} and Alston, {Charlotte L.} and Charlotte Knowles and Taylor, {Robert W.} and Robert McFarland and Smeets, {Hubert J. M.}",

year = "2017",

month = feb,

doi = "10.1136/jmedgenet-2016-103876",

language = "English",

volume = "54",

pages = "114--124",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

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}

De novo mtDNA point mutations are common and have a low recurrence risk. / Sallevelt, Suzanne C. E. H.; de Die-Smulders, Christine E. M.; Hendrickx, Alexandra T. M.; Hellebrekers, Debby M. E. I.; de Coo, Irenaeus F. M.; Alston, Charlotte L.; Knowles, Charlotte; Taylor, Robert W.; McFarland, Robert; Smeets, Hubert J. M.

In: Journal of Medical Genetics, Vol. 54, No. 2, 02.2017, p. 114-124.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - De novo mtDNA point mutations are common and have a low recurrence risk

AU - Sallevelt, Suzanne C. E. H.

AU - de Die-Smulders, Christine E. M.

AU - Hendrickx, Alexandra T. M.

AU - Hellebrekers, Debby M. E. I.

AU - de Coo, Irenaeus F. M.

AU - Alston, Charlotte L.

AU - Knowles, Charlotte

AU - Taylor, Robert W.

AU - McFarland, Robert

AU - Smeets, Hubert J. M.

PY - 2017/2

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KW - prenatal diagnosis (PND)

KW - genetic counselling

KW - CYTOCHROME-B GENE

KW - MITOCHONDRIAL-DNA MUTATION

KW - COMPLEX-III DEFICIENCY

KW - STOP-CODON MUTATION

KW - PROGRESSIVE EXERCISE INTOLERANCE

KW - HUMAN EMBRYOFETAL DEVELOPMENT

KW - HEREDITARY OPTIC NEUROPATHY

KW - OXIDASE SUBUNIT-II

KW - G-GREATER-THAN

KW - LEIGH-SYNDROME

U2 - 10.1136/jmedgenet-2016-103876

DO - 10.1136/jmedgenet-2016-103876

M3 - Article

VL - 54

SP - 114

EP - 124

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 2

ER -