Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient-Reference-Cited by-同舟云学术

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Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient

Published:2009-02 Issue:2 Volume:19 Page:143-146
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Blázquez Alberto,Gil-Borlado Mari Carmen,Morán María,Verdú Alfonso,Cazorla-Calleja María Rosario,Martín Miguel A.,Arenas Joaquín,Ugalde Cristina

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference9 articles.

1. Defects in mitochondrial respiratory complexes III and IV, human pathologies;Borisov;Mol Aspects Med,2002

2. Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome;Hinson;N Engl J Med,2007

3. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L;Visapaa;Am J Hum Genet,2002

4. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure;de Lonlay;Nat Genet,2001

5. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene;De Meirleir;Am J Med Genet A,2003

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1. Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update;Journal of Inherited Metabolic Disease;2024-07-25

2. Mitochondrial Neurodegeneration;Cells;2022-02-11

3. An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases;Biomolecules;2021-11-04

4. Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain;International Journal of Molecular Sciences;2021-08-03

5. Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster;Journal of Molecular Medicine;2021-07-17

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