SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

G Herma Renkema; Saskia Wortmann; Roel J Smeets; Hanka Venselaar; Marion Antoine; Gepke Visser; Tawfeg Ben-Omran; Lambert P van den Heuvel; Henri J L M Timmers; Jan A Smeitink; Richard J T Rodenburg

doi:10.1038/ejhg.2014.80

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

G Herma Renkema, Saskia Wortmann (Co-author), Roel J Smeets, Hanka Venselaar, Marion Antoine, Gepke Visser, Tawfeg Ben-Omran, Lambert P van den Heuvel, Henri J L M Timmers, Jan A Smeitink, Richard J T Rodenburg

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

74 Citations (Web of Science)

Original language	English
Pages (from-to)	202-209
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	23
Issue number	2
DOIs	https://doi.org/10.1038/ejhg.2014.80
Publication status	Published - 2015

Keywords

GASTROINTESTINAL STROMAL TUMORS
SUCCINATE-DEHYDROGENASE SUBUNIT
COMPLEX-II DEFICIENCY
ONSET OPTIC ATROPHY
RESPIRATORY-CHAIN
LEIGH-SYNDROME
GERMLINE SDHA
FLAVOPROTEIN GENE
PARAGANGLIOMA
PHEOCHROMOCYTOMA

Access to Document

10.1038/ejhg.2014.80

Cite this

Renkema, G. H., Wortmann, S., Smeets, R. J., Venselaar, H., Antoine, M., Visser, G., Ben-Omran, T., van den Heuvel, L. P., Timmers, H. J. L. M., Smeitink, J. A., & Rodenburg, R. J. T. (2015). SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. EUROPEAN JOURNAL OF HUMAN GENETICS , 23(2), 202-209. https://doi.org/10.1038/ejhg.2014.80

Renkema, G Herma ; Wortmann, Saskia ; Smeets, Roel J et al. / SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2015 ; Vol. 23, No. 2. pp. 202-209.

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title = "SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.",

keywords = "GASTROINTESTINAL STROMAL TUMORS, SUCCINATE-DEHYDROGENASE SUBUNIT, COMPLEX-II DEFICIENCY, ONSET OPTIC ATROPHY, RESPIRATORY-CHAIN, LEIGH-SYNDROME, GERMLINE SDHA, FLAVOPROTEIN GENE, PARAGANGLIOMA, PHEOCHROMOCYTOMA",

author = "Renkema, \{G Herma\} and Saskia Wortmann and Smeets, \{Roel J\} and Hanka Venselaar and Marion Antoine and Gepke Visser and Tawfeg Ben-Omran and \{van den Heuvel\}, \{Lambert P\} and Timmers, \{Henri J L M\} and Smeitink, \{Jan A\} and Rodenburg, \{Richard J T\}",

year = "2015",

doi = "10.1038/ejhg.2014.80",

language = "English",

volume = "23",

pages = "202--209",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

publisher = "Springer Nature",

number = "2",

}

Renkema, GH, Wortmann, S, Smeets, RJ, Venselaar, H, Antoine, M, Visser, G, Ben-Omran, T, van den Heuvel, LP, Timmers, HJLM, Smeitink, JA & Rodenburg, RJT 2015, 'SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 23, no. 2, pp. 202-209. https://doi.org/10.1038/ejhg.2014.80

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. / Renkema, G Herma; Wortmann, Saskia (Co-author); Smeets, Roel J et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 23, No. 2, 2015, p. 202-209.

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

TY - JOUR

T1 - SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

AU - Renkema, G Herma

AU - Wortmann, Saskia

AU - Smeets, Roel J

AU - Venselaar, Hanka

AU - Antoine, Marion

AU - Visser, Gepke

AU - Ben-Omran, Tawfeg

AU - van den Heuvel, Lambert P

AU - Timmers, Henri J L M

AU - Smeitink, Jan A

AU - Rodenburg, Richard J T

PY - 2015

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KW - GASTROINTESTINAL STROMAL TUMORS

KW - SUCCINATE-DEHYDROGENASE SUBUNIT

KW - COMPLEX-II DEFICIENCY

KW - ONSET OPTIC ATROPHY

KW - RESPIRATORY-CHAIN

KW - LEIGH-SYNDROME

KW - GERMLINE SDHA

KW - FLAVOPROTEIN GENE

KW - PARAGANGLIOMA

KW - PHEOCHROMOCYTOMA

U2 - 10.1038/ejhg.2014.80

DO - 10.1038/ejhg.2014.80

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C2 - 24781757

SN - 1018-4813

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SP - 202

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JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

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Renkema GH, Wortmann S, Smeets RJ, Venselaar H, Antoine M, Visser G et al. SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. EUROPEAN JOURNAL OF HUMAN GENETICS . 2015;23(2):202-209. doi: 10.1038/ejhg.2014.80