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http://hdl.handle.net/1843/57435| Tipo: | Artigo de Periódico |
| Título: | Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency |
| Autor(es): | Ana Cotta Ericka Viana Machado Carellos Alessandra De-La-Rocque-Ferreira Reinaldo Issao Takata Rita Horvath Elmano Carvalho Antonio Lopes Da-Cunha-Junior Mônica Machado Navarro Julia Filardi Paim Jaquelin Valicek Sidney Baptista-junior Eni Braga da Silveira Maria Isabel Lima |
| Resumo: | Reversible infantile respiratory chain deficiency is a severe neonatal mitochondrial myopathy that resolves spontaneously. It is caused by the homoplasmic m.14674T>C mtDNA mutation and additional nuclear variants in genes interacting with mt-tRNAGlu have been detected in some patients. We present detailed clinical, imaging, and muscle biopsy findings in a boy and a girl with neonatal hypotonia, feeding difficulties, lactic acidosis, and ragged red fibers. Both patients show fat replacement on muscle imaging, which was mild in the boy, but severe in the girl, affecting mostly the posterior leg muscles. In addition to the homoplasmic m.14674T>C, both patients carried heterozygous variants in QRSL1 (c. 686T>G; p.Val299Gly) and EARS2 (c.358C>T; p.Arg120Trp), respectively. It is very important to recognize the clinical and morphological signs of reversible infantile respiratory chain deficiency as patients should receive intensive supportive care in the first 6 months of life. Understanding the mechanism of the spontaneous recovery may lead to novel therapeutic perspectives in other mitochondrial diseases. |
| Assunto: | Miopatias Mitocondriais Biópsia Guiada por Imagem Síndrome de Kearns-Sayre |
| Idioma: | eng |
| País: | Brasil |
| Editor: | Universidade Federal de Minas Gerais |
| Sigla da Instituição: | UFMG |
| Departamento: | MED - DEPARTAMENTO DE PEDIATRIA |
| Tipo de Acesso: | Acesso Restrito |
| Identificador DOI: | https://doi.org/10.1016/j.nmd.2021.02.017 |
| URI: | http://hdl.handle.net/1843/57435 |
| Data do documento: | 2021 |
| metadata.dc.url.externa: | https://www.sciencedirect.com/science/article/pii/S0960896621000596?via%3Dihub |
| metadata.dc.relation.ispartof: | Neuromuscular Disorders |
| Aparece nas coleções: | Artigo de Periódico |
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