Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

Paulien Smits; Ann Saada; Saskia Wortmann; Angelien J Heister; Maaike Brink; Rolph Pfundt; Chaya Miller; Dorothea Haas; Ralph Hantschmann; Richard J T Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel

doi:10.1038/ejhg.2010.214

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

Paulien Smits, Ann Saada, Saskia Wortmann (Co-author), Angelien J Heister, Maaike Brink, Rolph Pfundt, Chaya Miller, Dorothea Haas, Ralph Hantschmann, Richard J T Rodenburg, Jan A M Smeitink, Lambert P van den Heuvel

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

81 Citations (Web of Science)

Original language	English
Pages (from-to)	394-399
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	19
Issue number	4
DOIs	https://doi.org/10.1038/ejhg.2010.214
Publication status	Published - 2011

Keywords

OXIDATIVE-PHOSPHORYLATION
TRANSLATION
DEFECTS
LEUKOENCEPHALOPATHY
ELECTROPHORESIS
DEFICIENCIES
COMPLEX
ARRAYS
EFG1
SNPS

Access to Document

10.1038/ejhg.2010.214

Cite this

Smits, P., Saada, A., Wortmann, S., Heister, A. J., Brink, M., Pfundt, R., Miller, C., Haas, D., Hantschmann, R., Rodenburg, R. J. T., Smeitink, J. A. M., & van den Heuvel, L. P. (2011). Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. EUROPEAN JOURNAL OF HUMAN GENETICS , 19(4), 394-399. https://doi.org/10.1038/ejhg.2010.214

Smits, Paulien ; Saada, Ann ; Wortmann, Saskia et al. / Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2011 ; Vol. 19, No. 4. pp. 394-399.

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title = "Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.",

keywords = "OXIDATIVE-PHOSPHORYLATION, TRANSLATION, DEFECTS, LEUKOENCEPHALOPATHY, ELECTROPHORESIS, DEFICIENCIES, COMPLEX, ARRAYS, EFG1, SNPS",

author = "Paulien Smits and Ann Saada and Saskia Wortmann and Heister, {Angelien J} and Maaike Brink and Rolph Pfundt and Chaya Miller and Dorothea Haas and Ralph Hantschmann and Rodenburg, {Richard J T} and Smeitink, {Jan A M} and {van den Heuvel}, {Lambert P}",

year = "2011",

doi = "10.1038/ejhg.2010.214",

language = "English",

volume = "19",

pages = "394--399",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

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number = "4",

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Smits, P, Saada, A, Wortmann, S, Heister, AJ, Brink, M, Pfundt, R, Miller, C, Haas, D, Hantschmann, R, Rodenburg, RJT, Smeitink, JAM & van den Heuvel, LP 2011, 'Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 19, no. 4, pp. 394-399. https://doi.org/10.1038/ejhg.2010.214

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. / Smits, Paulien; Saada, Ann; Wortmann, Saskia (Co-author) et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 19, No. 4, 2011, p. 394-399.

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

TY - JOUR

T1 - Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

AU - Smits, Paulien

AU - Saada, Ann

AU - Wortmann, Saskia

AU - Heister, Angelien J

AU - Brink, Maaike

AU - Pfundt, Rolph

AU - Miller, Chaya

AU - Haas, Dorothea

AU - Hantschmann, Ralph

AU - Rodenburg, Richard J T

AU - Smeitink, Jan A M

AU - van den Heuvel, Lambert P

PY - 2011

Y1 - 2011

KW - OXIDATIVE-PHOSPHORYLATION

KW - TRANSLATION

KW - DEFECTS

KW - LEUKOENCEPHALOPATHY

KW - ELECTROPHORESIS

KW - DEFICIENCIES

KW - COMPLEX

KW - ARRAYS

KW - EFG1

KW - SNPS

U2 - 10.1038/ejhg.2010.214

DO - 10.1038/ejhg.2010.214

M3 - Original Article

C2 - 21189481

SN - 1018-4813

VL - 19

SP - 394

EP - 399

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

IS - 4

ER -

Smits P, Saada A, Wortmann S, Heister AJ, Brink M, Pfundt R et al. Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. EUROPEAN JOURNAL OF HUMAN GENETICS . 2011;19(4):394-399. doi: 10.1038/ejhg.2010.214