Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Debby Mei Hellebrekers; Suzanne C. E. H. Sallevelt; Tom E. J. Theunissen; Alexandra T. M. Hendrickx; Ralph W. Gottschalk; Janneke G. J. Hoeijmakers; Daphna D. Habets; Jorgen Bierau; Kees G. Schoonderwoerd; Hubert J. M. Smeets

doi:10.1038/ejhg.2017.62

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Debby Mei Hellebrekers^*, Suzanne C. E. H. Sallevelt, Tom E. J. Theunissen, Alexandra T. M. Hendrickx, Ralph W. Gottschalk, Janneke G. J. Hoeijmakers, Daphna D. Habets, Jorgen Bierau, Kees G. Schoonderwoerd, Hubert J. M. Smeets

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	886-888
Number of pages	3
Journal	European Journal of Human Genetics
Volume	25
Issue number	7
DOIs	https://doi.org/10.1038/ejhg.2017.62
Publication status	Published - Jun 2017

Keywords

MITOCHONDRIAL
IDENTIFICATION
TRANSPORTER
RIBOFLAVIN

Access to Document

10.1038/ejhg.2017.62

Cite this

Hellebrekers, D. M., Sallevelt, S. C. E. H., Theunissen, T. E. J., Hendrickx, A. T. M., Gottschalk, R. W., Hoeijmakers, J. G. J., Habets, D. D., Bierau, J., Schoonderwoerd, K. G., & Smeets, H. J. M. (2017). Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype. European Journal of Human Genetics, 25(7), 886-888. https://doi.org/10.1038/ejhg.2017.62

Hellebrekers, Debby Mei ; Sallevelt, Suzanne C. E. H. ; Theunissen, Tom E. J. ; Hendrickx, Alexandra T. M. ; Gottschalk, Ralph W. ; Hoeijmakers, Janneke G. J. ; Habets, Daphna D. ; Bierau, Jorgen ; Schoonderwoerd, Kees G. ; Smeets, Hubert J. M. / Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype. In: European Journal of Human Genetics. 2017 ; Vol. 25, No. 7. pp. 886-888.

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title = "Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype",

keywords = "MITOCHONDRIAL, IDENTIFICATION, TRANSPORTER, RIBOFLAVIN",

author = "Hellebrekers, {Debby Mei} and Sallevelt, {Suzanne C. E. H.} and Theunissen, {Tom E. J.} and Hendrickx, {Alexandra T. M.} and Gottschalk, {Ralph W.} and Hoeijmakers, {Janneke G. J.} and Habets, {Daphna D.} and Jorgen Bierau and Schoonderwoerd, {Kees G.} and Smeets, {Hubert J. M.}",

year = "2017",

month = jun,

doi = "10.1038/ejhg.2017.62",

language = "English",

volume = "25",

pages = "886--888",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

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Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype. / Hellebrekers, Debby Mei ; Sallevelt, Suzanne C. E. H.; Theunissen, Tom E. J.; Hendrickx, Alexandra T. M.; Gottschalk, Ralph W.; Hoeijmakers, Janneke G. J.; Habets, Daphna D.; Bierau, Jorgen; Schoonderwoerd, Kees G.; Smeets, Hubert J. M.

In: European Journal of Human Genetics, Vol. 25, No. 7, 06.2017, p. 886-888.

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

TY - JOUR

T1 - Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

AU - Hellebrekers, Debby Mei

AU - Sallevelt, Suzanne C. E. H.

AU - Theunissen, Tom E. J.

AU - Hendrickx, Alexandra T. M.

AU - Gottschalk, Ralph W.

AU - Hoeijmakers, Janneke G. J.

AU - Habets, Daphna D.

AU - Bierau, Jorgen

AU - Schoonderwoerd, Kees G.

AU - Smeets, Hubert J. M.

PY - 2017/6

Y1 - 2017/6

KW - MITOCHONDRIAL

KW - IDENTIFICATION

KW - TRANSPORTER

KW - RIBOFLAVIN

U2 - 10.1038/ejhg.2017.62

DO - 10.1038/ejhg.2017.62

M3 - Article

C2 - 28443623

VL - 25

SP - 886

EP - 888

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 7

ER -