A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Debby M. E. I. Hellebrekers; Emma L. Blakely; Alexandra T. M. Hendrickx; Steven A. Hardy; Sila Hopton; Gavin Falkous; Irenaeus F. M. de Coo; Hubert J. M. Smeets; Nadine M. E. van der Beek; Robert W. Taylor

doi:10.1016/j.nmd.2019.08.005

A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Debby M. E. I. Hellebrekers^*, Emma L. Blakely, Alexandra T. M. Hendrickx, Steven A. Hardy, Sila Hopton, Gavin Falkous, Irenaeus F. M. de Coo, Hubert J. M. Smeets, Nadine M. E. van der Beek, Robert W. Taylor

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	693-697
Number of pages	5
Journal	Neuromuscular Disorders
Volume	29
Issue number	9
DOIs	https://doi.org/10.1016/j.nmd.2019.08.005
Publication status	Published - Sep 2019

Keywords

Mitochondrial disease
Chronic progressive external ophthalmoplegia
Myopathy
mtDNA variant
m.4414T>C
MTTM
MUTATION
ASSAY

Access to Document

10.1016/j.nmd.2019.08.005

Cite this

Hellebrekers, D. M. E. I., Blakely, E. L., Hendrickx, A. T. M., Hardy, S. A., Hopton, S., Falkous, G., de Coo, I. F. M., Smeets, H. J. M., van der Beek, N. M. E., & Taylor, R. W. (2019). A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. Neuromuscular Disorders, 29(9), 693-697. https://doi.org/10.1016/j.nmd.2019.08.005

Hellebrekers, Debby M. E. I. ; Blakely, Emma L. ; Hendrickx, Alexandra T. M. ; Hardy, Steven A. ; Hopton, Sila ; Falkous, Gavin ; de Coo, Irenaeus F. M. ; Smeets, Hubert J. M. ; van der Beek, Nadine M. E. ; Taylor, Robert W. / A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. In: Neuromuscular Disorders. 2019 ; Vol. 29, No. 9. pp. 693-697.

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title = "A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy",

keywords = "Mitochondrial disease, Chronic progressive external ophthalmoplegia, Myopathy, mtDNA variant, m.4414T>C, MTTM, MUTATION, ASSAY",

author = "Hellebrekers, {Debby M. E. I.} and Blakely, {Emma L.} and Hendrickx, {Alexandra T. M.} and Hardy, {Steven A.} and Sila Hopton and Gavin Falkous and {de Coo}, {Irenaeus F. M.} and Smeets, {Hubert J. M.} and {van der Beek}, {Nadine M. E.} and Taylor, {Robert W.}",

year = "2019",

month = sep,

doi = "10.1016/j.nmd.2019.08.005",

language = "English",

volume = "29",

pages = "693--697",

journal = "Neuromuscular Disorders",

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A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. / Hellebrekers, Debby M. E. I.; Blakely, Emma L.; Hendrickx, Alexandra T. M.; Hardy, Steven A.; Hopton, Sila; Falkous, Gavin; de Coo, Irenaeus F. M.; Smeets, Hubert J. M.; van der Beek, Nadine M. E.; Taylor, Robert W.

In: Neuromuscular Disorders, Vol. 29, No. 9, 09.2019, p. 693-697.

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

TY - JOUR

T1 - A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

AU - Hellebrekers, Debby M. E. I.

AU - Blakely, Emma L.

AU - Hendrickx, Alexandra T. M.

AU - Hardy, Steven A.

AU - Hopton, Sila

AU - Falkous, Gavin

AU - de Coo, Irenaeus F. M.

AU - Smeets, Hubert J. M.

AU - van der Beek, Nadine M. E.

AU - Taylor, Robert W.

PY - 2019/9

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KW - Mitochondrial disease

KW - Chronic progressive external ophthalmoplegia

KW - Myopathy

KW - mtDNA variant

KW - m.4414T>C

KW - MTTM

KW - MUTATION

KW - ASSAY

U2 - 10.1016/j.nmd.2019.08.005

DO - 10.1016/j.nmd.2019.08.005

M3 - Article

VL - 29

SP - 693

EP - 697

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 9

ER -