Reference - PMID:29079705 - A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
Reference summary
- PubMed ID
- PMID:29079705
- Title
- A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
- Authors
- Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Mühlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D
- Citation
- J Med Genet 2017 Dec;54(12):815-824
- Publication year
- 2017
- Abstract
- A next-generation sequencing (NGS) approach was carried out on an Italian male who presented in childhood with ptosis, severe muscle weakness and exercise intolerance. His disease was slowly progressive, with partial recovery between episodes. Patient's specimens and yeast models were investigated.
