Clinical and biochemical spectrum of mitochondrial complex III deficiency caused 
by mutations in the BCS1L gene.

M.a. Ramos-Arroyo; J. Hualde; A. Ayechu; Linda De Meirleir; Sara Seneca; N. Nadal; Paz Briones

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.

M.a. Ramos-Arroyo, J. Hualde, A. Ayechu, Linda De Meirleir, Sara Seneca, N. Nadal, Paz Briones

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

33 Citations (Scopus)

Abstract

Letter to the Editor

Original language	English
Pages (from-to)	585-587
Number of pages	3
Journal	Clin Genet
Volume	75
Issue number	June
Publication status	Published - 2009

Keywords

mitochondrial disorder
mitochondrial complex III deficiency
BCS1L gene
GRACILE syndrome
Bjornstad syndrome

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http://www.ncbi.nlm.nih.gov/pubmed/19508421?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

FWOAL377: Molecular investigations in the patients with defects in the complexes of the oxidative phosphorylation and the pyruvate dehydrogenase complex.
De Meirleir, L., Seneca, S. & Lissens, W.
1/01/06 → 31/12/09
Project: Fundamental

Cite this

Ramos-Arroyo, M. A., Hualde, J., Ayechu, A., De Meirleir, L., Seneca, S., Nadal, N., & Briones, P. (2009). Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. Clin Genet, 75(June), 585-587. http://www.ncbi.nlm.nih.gov/pubmed/19508421?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

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title = "Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.",

abstract = "Letter to the Editor",

keywords = "mitochondrial disorder, mitochondrial complex III deficiency, BCS1L gene, GRACILE syndrome, Bjornstad syndrome",

author = "M.a. Ramos-Arroyo and J. Hualde and A. Ayechu and {De Meirleir}, Linda and Sara Seneca and N. Nadal and Paz Briones",

year = "2009",

language = "English",

volume = "75",

pages = "585--587",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

number = "June",

}

Ramos-Arroyo, MA, Hualde, J, Ayechu, A, De Meirleir, L, Seneca, S, Nadal, N & Briones, P 2009, 'Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.', Clin Genet, vol. 75, no. June, pp. 585-587. <http://www.ncbi.nlm.nih.gov/pubmed/19508421?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum>

TY - JOUR

T1 - Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.

AU - Ramos-Arroyo, M.a.

AU - Hualde, J.

AU - Ayechu, A.

AU - De Meirleir, Linda

AU - Seneca, Sara

AU - Nadal, N.

AU - Briones, Paz

PY - 2009

Y1 - 2009

N2 - Letter to the Editor

AB - Letter to the Editor

KW - mitochondrial disorder

KW - mitochondrial complex III deficiency

KW - BCS1L gene

KW - GRACILE syndrome

KW - Bjornstad syndrome

M3 - Article

VL - 75

SP - 585

EP - 587

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - June

ER -

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.

Abstract

Keywords

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Projects

FWOAL377: Molecular investigations in the patients with defects in the complexes of the oxidative phosphorylation and the pyruvate dehydrogenase complex.

Cite this