A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency-Reference-Cited by-同舟云学术

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

Published:2010-05 Issue:3 Volume:14 Page:253-260
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Pronicki Maciej,Kowalski Paweł,Piekutowska-Abramczuk Dorota,Taybert Joanna,Karkucinska-Wieckowska Agnieszka,Szymanska-Debinska Tamara,Karczmarewicz Elzbieta,Pajdowska Magdalena,Migdal Marek,Milewska-Bobula Bogumila,Sykut-Cegielska Jolanta,Popowska Ewa

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference39 articles.

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3. Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase;Leary;Hum Mol Genet,2004

4. p53 regulates mitochondrial respiration;Matoba;Science,2006

5. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency;Jaksch;Hum Mol Genet,2000

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