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Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.
- Source :
-
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2024 Feb; Vol. 82 (2), pp. 1-4. Date of Electronic Publication: 2024 Feb 23. - Publication Year :
- 2024
-
Abstract
- Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients with myopathy due to CPT II deficiency, where the biochemical analysis confirmed deficient CPT activity in the muscle of both cases. Over the past 40 years since the pioneering publication, clinical phenotypes and genetic loci in the CPT2 gene have been described, and pathogenic mechanisms have been better elucidated. Genetic analysis of one of the original cases disclosed compound heterozygous pathogenic variants (p.Ser113Leu/p.Pro50His) in the CPT2 gene. Our report highlights the historical aspects of the first Brazilian publication of the myopathic form of CPT II deficiency and updates the genetic background of this pioneering publication.<br />Competing Interests: There is no conflict of interest to declare.<br /> (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).)
- Subjects :
- Humans
Carnitine O-Palmitoyltransferase genetics
Carnitine O-Palmitoyltransferase metabolism
Brazil
Mutation
Carnitine O-Palmitoyltransferase deficiency
Muscular Diseases genetics
Muscular Diseases pathology
Metabolism, Inborn Errors genetics
Metabolism, Inborn Errors metabolism
Metabolism, Inborn Errors pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1678-4227
- Volume :
- 82
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Arquivos de neuro-psiquiatria
- Publication Type :
- Academic Journal
- Accession number :
- 38395422
- Full Text :
- https://doi.org/10.1055/s-0044-1779508