Lightning Strikes Twice in the Same Place: Mitochondrial Myopathy and Malignant Hyperthermia—A Case Report
Rafaela Souto e Souza de Melo, Jorge Kiyoshi Mitsunaga Júnior, André Macedo Serafim da Silva, Brandow Willy Souza, Joilson Moura Santos, Pamela Vieira Andrade, Acary Souza Bulle Oliveira, Claudia Ferreira da Rosa Sobreira, Mariz Vainzof, Helga Cristina Almeida da Silva, Semonti Nandi · 2026
Read Lightning Strikes Twice in the Same Place: Mitochondrial Myopathy and Malignant Hyperthermia—A Case Report by Rafaela Souto e Souza de Melo, Jorge Kiyoshi Mitsunaga Júnior, André Macedo Serafim da Silva, Brandow Willy Souza, Joilson Moura Santos, Pamela Vieira Andrade, Acary Souza Bulle Oliveira, Claudia Ferreira da Rosa Sobreira, Mariz Vainzof, Helga Cristina Almeida da Silva, Semonti Nandi (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13621819.txt.
Description
Rafaela Souto e Souza de Melo and colleagues present a case report where two rare muscle conditions met in one family, with fatal results. One condition, mitochondrial myopathy, weakens muscles because the cell's energy producers fail. The other, malignant hyperthermia, is a dangerous reaction to certain anaesthetic drugs that sends the body into overdrive.
The report describes a deadly, unusual reaction to anaesthesia in the patient. Testing then found mitochondrial dysfunction in the mother. A variant in the RYR1 gene turned up in the father, who had no symptoms, and in a cousin with muscle breakdown after exercise. Two separate inherited problems can hide in one family, the authors stress. Care teams may face clashing priorities, so broad genetic and family checks matter before surgery.
Catalog record
| CREATOR | Rafaela Souto e Souza de Melo, Jorge Kiyoshi Mitsunaga Júnior, André Macedo Serafim da Silva, Brandow Willy Souza, Joilson Moura Santos, Pamela Vieira Andrade, Acary Souza Bulle Oliveira, Claudia Ferreira da Rosa Sobreira, Mariz Vainzof, Helga Cristina Almeida da Silva, Semonti Nandi |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 16 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |