PURPOSE OF REVIEW: The first reports published in 2010 on enzyme replacement therapy in late-onset Pompe disease (LOPD) allow us now to stand back and adapt the strategies. In the meantime, substantial progress has been made in basic and applied research on animal models to enhance the efficacy of treatments. This brief review highlights the...
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October 2011 (v1)Journal articleUploaded on: December 4, 2022
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July 2009 (v1)Journal article
Isolated cytochrome c oxidase (COX) deficiency (MIM#220110) is a relatively common biochemical finding in pediatric patients with mitochondrial disorder. It has been associated with different clinical phenotypes ranging from isolated myopathy to severe multisystem disorder. It is a genetically heterogeneous trait, and the most frequent genetic...
Uploaded on: December 3, 2022 -
March 31, 2015 (v1)Journal article
International audience
Uploaded on: March 26, 2023 -
January 2010 (v1)Journal article
Coenzyme Q(10) (CoQ(10)) deficiency has been associated with an increasing number of clinical phenotypes. Whereas primary CoQ(10) defects are related to mutations in ubiquinone biosynthetic genes, which are now being unraveled, and respond well to CoQ(10) supplementation, the etiologies, and clinical phenotypes related to secondary deficiencies...
Uploaded on: December 4, 2022 -
January 29, 2017 (v1)Journal article
International audience
Uploaded on: February 28, 2023 -
October 7, 2011 (v1)Journal article
ObjectiveTo identify the genetic and epigenetic defects in patients presenting with a facioscapulohumeral (FSHD) clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis and Southern blot analysis.Design and patientsThe authors studied 16 patients displaying an FSHD-like phenotype, with normal...
Uploaded on: December 3, 2022 -
2012 (v1)Journal article
BACKGROUND: Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the defect in patients' cells. Bezafibrate (BZF), an approved hypolipidemic agent, ameliorates the COX deficiency in mice...
Uploaded on: December 2, 2022 -
March 2012 (v1)Journal article
BACKGROUND: COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q(10) (CoQ(10)). A 3.9 Mb deletion of chromosome 9q34.13 was identified in a 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because the deletion encompassed COQ4, the patient was screened for CoQ(10)...
Uploaded on: December 3, 2022 -
September 25, 2013 (v1)Journal article
: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4 to a size of 1-10 units. The residual number of D4Z4 units inversely correlates with clinical severity, but significant clinical variability exists. Each unit contains a copy of the DUX4 retrogene. Repeat contractions are...
Uploaded on: October 11, 2023 -
September 25, 2013 (v1)Journal article
: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4 to a size of 1-10 units. The residual number of D4Z4 units inversely correlates with clinical severity, but significant clinical variability exists. Each unit contains a copy of the DUX4 retrogene. Repeat contractions are...
Uploaded on: December 2, 2022