Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Tobias B Haack; Matteo Gorza; Katharina Danhauser; Johannes A. Mayr; Birgit Haberberger; Thomas Wieland; Laura Kremer; Valentina Strecker; Elisabeth Graf; Yasin Memari; Uwe Ahting; Robert Kopajtich; Saskia Wortmann; Richard J Rodenburg; Urania Kotzaeridou; Georg F Hoffmann; Wolfgang Sperl; Ilka Wittig; Ekkehard Wilichowski; Gudrun Schottmann; Markus Schuelke; Barbara Plecko; Ulrich Stephani; Tim M Strom; Thomas Meitinger; Holger Prokisch; Peter Freisinger

doi:10.1016/j.ymgme.2013.12.010

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Tobias B Haack, Matteo Gorza, Katharina Danhauser, Johannes A. Mayr (Co-Autor/-in), Birgit Haberberger, Thomas Wieland, Laura Kremer, Valentina Strecker, Elisabeth Graf, Yasin Memari, Uwe Ahting, Robert Kopajtich, Saskia Wortmann (Co-Autor/-in), Richard J Rodenburg, Urania Kotzaeridou, Georg F Hoffmann, Wolfgang Sperl (Co-Autor/-in), Ilka Wittig, Ekkehard Wilichowski, Gudrun SchottmannMarkus Schuelke, Barbara Plecko, Ulrich Stephani, Tim M Strom, Thomas Meitinger, Holger Prokisch, Peter Freisinger

Universitätsklinik für Kinder- und Jugendheilkunde

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

51 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	342-352
Fachzeitschrift	MOLECULAR GENETICS AND METABOLISM
Jahrgang	111
Ausgabenummer	3
DOIs	https://doi.org/10.1016/j.ymgme.2013.12.010
Publikationsstatus	Veröffentlicht - 2014

Zugriff auf Dokument

10.1016/j.ymgme.2013.12.010

Dieses zitieren

Haack, T. B., Gorza, M., Danhauser, K., Mayr, J. A., Haberberger, B., Wieland, T., Kremer, L., Strecker, V., Graf, E., Memari, Y., Ahting, U., Kopajtich, R., Wortmann, S., Rodenburg, R. J., Kotzaeridou, U., Hoffmann, G. F., Sperl, W., Wittig, I., Wilichowski, E., ... Freisinger, P. (2014). Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. MOLECULAR GENETICS AND METABOLISM , 111(3), 342-352. https://doi.org/10.1016/j.ymgme.2013.12.010

Haack, Tobias B ; Gorza, Matteo ; Danhauser, Katharina et al. / Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. in: MOLECULAR GENETICS AND METABOLISM 2014 ; Jahrgang 111, Nr. 3. S. 342-352.

@article{edd4315d407241629b84512c37d73902,

title = "Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening",

keywords = "COMPLEX I DEFICIENCY, SIDEROBLASTIC ANEMIA-MLASA, RNA SYNTHETASE MUTATIONS, MITOCHONDRIAL TRANSLATION, HYPERTROPHIC CARDIOMYOPATHY, MISSENSE MUTATION, LACTIC-ACIDOSIS, BRAIN-STEM, UNDERLIE, DEFECT",

author = "Haack, {Tobias B} and Matteo Gorza and Katharina Danhauser and Mayr, {Johannes A.} and Birgit Haberberger and Thomas Wieland and Laura Kremer and Valentina Strecker and Elisabeth Graf and Yasin Memari and Uwe Ahting and Robert Kopajtich and Saskia Wortmann and Rodenburg, {Richard J} and Urania Kotzaeridou and Hoffmann, {Georg F} and Wolfgang Sperl and Ilka Wittig and Ekkehard Wilichowski and Gudrun Schottmann and Markus Schuelke and Barbara Plecko and Ulrich Stephani and Strom, {Tim M} and Thomas Meitinger and Holger Prokisch and Peter Freisinger",

note = "Haack, TB [1,2]; Gorza, M [1]; Danhauser, K [1,2]; Mayr, JA [3]; Haberberger, B [2]; Wieland, T [1]; Kremer, L [1]; Strecker, V [4]; Graf, E [1]; Memari, Y [5]; Ahting, U [2]; Kopajtich, R; Wortmann, SB [6]; Rodenburg, RJ [6]; Kotzaeridou, U [7]; Hoffmann, GF [7]; Sperl, W [3]; Wittig, I [4]; Wilichowski, E [8]; Schottmann, G [9,10]; Schuelke, M [9,10]; Plecko, B [11]; Stephani, U [12]; Strom, TM [1,2]; Meitinger, T [1,2]; Prokisch, H [1,2]; Freisinger, P [13] [1] Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany [2] Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany [3] Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria [4] Goethe Univ Frankfurt, Fac Med, SFB Core Unit 815, D-60590 Frankfurt, Germany [5] Wellcome Trust Sanger Inst, Hinxton, Cambs, England [6] Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders, NL-6500 HB Nijmegen, Netherlands [7] Univ Childrens Hosp, Dept Gen Pediat, Div Inherited Metab Dis, D-69120 Heidelberg, Germany [8] Univ Med Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany [9] Charite, Dept Neuropediat, D-13125 Berlin, Germany [10] Charite, NeuroCure Clin Res Ctr, D-13125 Berlin, Germany [11] Kinderspital Zurich, Dept Neurol, CH-8032 Zurich, Switzerland [12] Univ Hosp, Dept Neuropediat, D-24105 Kiel, Germany [13] Klinikum Reutlingen, Dept Pediat, Inherited Metab Dis Ctr, D-72764 Reutlingen, Germany",

year = "2014",

doi = "10.1016/j.ymgme.2013.12.010",

language = "English",

volume = "111",

pages = "342--352",

journal = "MOLECULAR GENETICS AND METABOLISM ",

issn = "1096-7192",

publisher = "Elsevier ",

number = "3",

}

Haack, TB, Gorza, M, Danhauser, K, Mayr, JA, Haberberger, B, Wieland, T, Kremer, L, Strecker, V, Graf, E, Memari, Y, Ahting, U, Kopajtich, R, Wortmann, S, Rodenburg, RJ, Kotzaeridou, U, Hoffmann, GF, Sperl, W, Wittig, I, Wilichowski, E, Schottmann, G, Schuelke, M, Plecko, B, Stephani, U, Strom, TM, Meitinger, T, Prokisch, H & Freisinger, P 2014, 'Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening', MOLECULAR GENETICS AND METABOLISM , Jg. 111, Nr. 3, S. 342-352. https://doi.org/10.1016/j.ymgme.2013.12.010

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. / Haack, Tobias B; Gorza, Matteo; Danhauser, Katharina et al.
in: MOLECULAR GENETICS AND METABOLISM , Jahrgang 111, Nr. 3, 2014, S. 342-352.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

TY - JOUR

T1 - Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

AU - Haack, Tobias B

AU - Gorza, Matteo

AU - Danhauser, Katharina

AU - Mayr, Johannes A.

AU - Haberberger, Birgit

AU - Wieland, Thomas

AU - Kremer, Laura

AU - Strecker, Valentina

AU - Graf, Elisabeth

AU - Memari, Yasin

AU - Ahting, Uwe

AU - Kopajtich, Robert

AU - Wortmann, Saskia

AU - Rodenburg, Richard J

AU - Kotzaeridou, Urania

AU - Hoffmann, Georg F

AU - Sperl, Wolfgang

AU - Wittig, Ilka

AU - Wilichowski, Ekkehard

AU - Schottmann, Gudrun

AU - Schuelke, Markus

AU - Plecko, Barbara

AU - Stephani, Ulrich

AU - Strom, Tim M

AU - Meitinger, Thomas

AU - Prokisch, Holger

AU - Freisinger, Peter

N1 - Haack, TB [1,2]; Gorza, M [1]; Danhauser, K [1,2]; Mayr, JA [3]; Haberberger, B [2]; Wieland, T [1]; Kremer, L [1]; Strecker, V [4]; Graf, E [1]; Memari, Y [5]; Ahting, U [2]; Kopajtich, R; Wortmann, SB [6]; Rodenburg, RJ [6]; Kotzaeridou, U [7]; Hoffmann, GF [7]; Sperl, W [3]; Wittig, I [4]; Wilichowski, E [8]; Schottmann, G [9,10]; Schuelke, M [9,10]; Plecko, B [11]; Stephani, U [12]; Strom, TM [1,2]; Meitinger, T [1,2]; Prokisch, H [1,2]; Freisinger, P [13] [1] Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany [2] Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany [3] Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria [4] Goethe Univ Frankfurt, Fac Med, SFB Core Unit 815, D-60590 Frankfurt, Germany [5] Wellcome Trust Sanger Inst, Hinxton, Cambs, England [6] Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders, NL-6500 HB Nijmegen, Netherlands [7] Univ Childrens Hosp, Dept Gen Pediat, Div Inherited Metab Dis, D-69120 Heidelberg, Germany [8] Univ Med Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany [9] Charite, Dept Neuropediat, D-13125 Berlin, Germany [10] Charite, NeuroCure Clin Res Ctr, D-13125 Berlin, Germany [11] Kinderspital Zurich, Dept Neurol, CH-8032 Zurich, Switzerland [12] Univ Hosp, Dept Neuropediat, D-24105 Kiel, Germany [13] Klinikum Reutlingen, Dept Pediat, Inherited Metab Dis Ctr, D-72764 Reutlingen, Germany

PY - 2014

Y1 - 2014

KW - COMPLEX I DEFICIENCY

KW - SIDEROBLASTIC ANEMIA-MLASA

KW - RNA SYNTHETASE MUTATIONS

KW - MITOCHONDRIAL TRANSLATION

KW - HYPERTROPHIC CARDIOMYOPATHY

KW - MISSENSE MUTATION

KW - LACTIC-ACIDOSIS

KW - BRAIN-STEM

KW - UNDERLIE

KW - DEFECT

U2 - 10.1016/j.ymgme.2013.12.010

DO - 10.1016/j.ymgme.2013.12.010

M3 - Original Article

C2 - 24461907

SN - 1096-7192

VL - 111

SP - 342

EP - 352

JO - MOLECULAR GENETICS AND METABOLISM

JF - MOLECULAR GENETICS AND METABOLISM

IS - 3

ER -

Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T et al. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. MOLECULAR GENETICS AND METABOLISM . 2014;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010