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MT-TA pathogenic variants may cause developmental and epileptic encephalopathy without myopathy.
Sahly, Ahmed N; Buhas, Daniela; Myers, Kenneth A.
Affiliation
  • Sahly AN; Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
  • Buhas D; Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia.
  • Myers KA; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
Am J Med Genet A ; 188(10): 3135-3138, 2022 10.
Article in En | MEDLINE | ID: mdl-35920329
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Muscular Diseases Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Canada Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Muscular Diseases Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Canada Country of publication: United States