| 概要 |
Mitochondrial progressive myopathy with congenital cataract and developmental delay (MPMCD) is a rare mitochondrial encephalomyopathy caused by mutations in the GFER gene. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss. It has been suggested that mutations in GFER affect the protein content of the mitochondrial intermembrane space, including some proteins involved in COX biogenesis, and lead to a progressive mitochondrial myopathy.
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| 著者 |
Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP |
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