Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cassandra Pantano"'
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 102-109 (2024)
Abstract Ferredoxin‐2 (FDX2) is an electron transport protein required for iron–sulfur clusters biosynthesis. Pathogenic variants in FDX2 have been associated with autosomal recessive FDX2‐related disorder characterized by mitochondrial myopath
Externí odkaz:
https://doaj.org/article/58f5ede61b154c5a8b176c8c42ec6992
Autor:
Amy C. Goldstein, Cassandra Pantano, Mariya Redko, Laura E. MacMullen, Katsuhide Maeda, Matthew J. O’Connor
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101859- (2024)
Purpose: Barth syndrome (BTHS; OMIM #302060) is a rare disease characterized by cardiolipin abnormalities and cardiomyopathy, intermittent neutropenia and skeletal myopathy among other defects. Elamipretide is an investigational drug that binds to ca
Externí odkaz:
https://doaj.org/article/01b2ab33b88f430a95eabdd10181c300