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

D Hellebrekers; EL Blakely; AT Hendrickx; SA Hardy; S Hopton; G Falkous; IFM Coo; HJT Smeets; NAME Beek; RW 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

D Hellebrekers
, EL Blakely
, AT Hendrickx
, SA Hardy
, S Hopton
, G Falkous
, IFM Coo
, HJT Smeets
, NAME Beek
, RW Taylor

Neurology

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

3 Citations (Scopus)

29 Downloads (Pure)

Original language	Undefined/Unknown
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 - 2019

Research programs

EMC OR-01

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10.1016/j.nmd.2019.08.005

Repub_120465_O-A.pdfFinal published version, 841 KB

http://hdl.handle.net/1765/120465

Cite this

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

author = "D Hellebrekers and EL Blakely and AT Hendrickx and SA Hardy and S Hopton and G Falkous and IFM Coo and HJT Smeets and NAME Beek and RW Taylor",

year = "2019",

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

language = "Undefined/Unknown",

volume = "29",

pages = "693--697",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd.",

number = "9",

}

TY - JOUR

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

AU - Hellebrekers, D

AU - Blakely, EL

AU - Hendrickx, AT

AU - Hardy, SA

AU - Hopton, S

AU - Falkous, G

AU - Coo, IFM

AU - Smeets, HJT

AU - Beek, NAME

AU - Taylor, RW

PY - 2019

Y1 - 2019

U2 - 10.1016/j.nmd.2019.08.005

DO - 10.1016/j.nmd.2019.08.005

M3 - Article

SN - 0960-8966

VL - 29

SP - 693

EP - 697

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 9

ER -