And Developmental Delay Hearing Loss With Congenital Cataract Mitochondrial Progressive Myopathy

asociated with mutation in GFER

Also Known As:

Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay; Mitochondrial Complex Deficiency, Combined; Myopathy With Cataract And Combined Respiratory Chain Deficiency

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Experts

1.	Bordoni, Andreina: 1 article (05/2009)
2.	Bresolin, Nereo: 1 article (05/2009)
3.	Comi, Giacomo P: 1 article (05/2009)
4.	Corti, Stefania: 1 article (05/2009)
5.	Di Fonzo, Alessio: 1 article (05/2009)
6.	Donadoni, Chiara: 1 article (05/2009)
7.	Fassone, Elisa: 1 article (05/2009)
8.	Ferrero, Iliana: 1 article (05/2009)
9.	Fortunato, Francesco: 1 article (05/2009)
10.	Lamperti, Costanza: 1 article (05/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to And Developmental Delay Hearing Loss With Congenital Cataract Mitochondrial Progressive Myopathy:

1.	Proteins (Proteins, Gene)FDA Link 05/01/2009 - "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency."
2.	DisulfidesIBA 05/01/2009 - "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency."