A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population
Neurol Sci
.
2023 Jul;44(7):2599-2602.
doi: 10.1007/s10072-023-06707-x.
Epub 2023 Mar 1.
Authors
Zahra Sadr
1
,
Davood Zare-Abdollahi
1
,
Mohammad Rohani
2
,
Afagh Alavi
3
4
Affiliations
1
Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
2
Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran.
3
Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. afaghalavi@gmail.com.
4
Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran. afaghalavi@gmail.com.
PMID:
36854932
DOI:
10.1007/s10072-023-06707-x
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
MeSH terms
Humans
Iran
Mutation / genetics
Pedigree
Spastic Paraplegia, Hereditary* / genetics
Spastin / genetics
Substances
Spastin
ubiquinone 7
COQ7 protein, human
Grants and funding
2592/University of Social Welfare and Rehabilitation Sciences