Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the <i>ACADVL</i> Gene

Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the <i>ACADVL</i> Gene

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the <i>ACADVL</i> gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyolysis, and muscle pain, usually...

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Hlavní autoři: Beatrice Labella, Gaetana Lanzi, Stefano Cotti Piccinelli, Filomena Caria, Simona Damioli, Barbara Risi, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto
Médium: Článek
Jazyk:English
Vydáno: MDPI AG 2023-08-01
Edice:Brain Sciences
Témata:
lipid myopathy
<i>ACADVL</i>
VLCAD
VLCADD
myoglobinuria
rhabdomyolysis
On-line přístup:https://www.mdpi.com/2076-3425/13/8/1178

Internet

https://www.mdpi.com/2076-3425/13/8/1178

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