Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil
| Autor: | Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Raquel Cristina Arndt, Rosana Herminia Scola, Lineu Cesar Werneck |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 82, Iss 02, Pp 001-004 (2024) |
| Druh dokumentu: | article |
| ISSN: | 0004-282X 1678-4227 |
| DOI: | 10.1055/s-0044-1779508 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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