MT-TA pathogenic variants may cause developmental and epileptic encephalopathy without myopathy
Am J Med Genet A
.
2022 Oct;188(10):3135-3138.
doi: 10.1002/ajmg.a.62925.
Epub 2022 Aug 3.
Authors
Ahmed N Sahly
1
2
,
Daniela Buhas
3
4
,
Kenneth A Myers
1
5
6
Affiliations
1
Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
2
Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia.
3
Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
4
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
5
Child Health and Human Development Program, Research Institute of the McGill University Medical Centre, Montreal, Quebec, Canada.
6
Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
PMID:
35920329
DOI:
10.1002/ajmg.a.62925
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
MeSH terms
Humans
Muscular Diseases*
Spasms, Infantile* / diagnosis
Spasms, Infantile* / genetics