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 starting du...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Beatrice Labella, Gaetana Lanzi, Stefano Cotti Piccinelli, Filomena Caria, Simona Damioli, Barbara Risi, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	MDPI AG 2023-08-01
Цуврал:	Brain Sciences
Нөхцлүүд:	lipid myopathy <i>ACADVL</i> VLCAD VLCADD myoglobinuria rhabdomyolysis
Онлайн хандалт:	https://www.mdpi.com/2076-3425/13/8/1178
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!