Homozygous Duplication in the <i>CHRNE</i> in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up. | Biomedicines;11(11)2023 Nov 06. | MEDLINE

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Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.

Almatrafi, Ahmad M; Alluqmani, Majed M; Basit, Sulman.

Affiliation

Almatrafi AM; Department of Biology, College of Science, Taibah University, Medina 42353, Saudi Arabia.
Alluqmani MM; Department of Neurology, College of Medicine, Taibah University, Medina 42353, Saudi Arabia.
Basit S; Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University, Medina 42353, Saudi Arabia.

Biomedicines ; 11(11)2023 Nov 06.

Article in En | MEDLINE | ID: mdl-38001983

Key words

CHRNE mutation; congenital myasthenic syndrome; genetics; phenotypic spectrum

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Biomedicines Year: 2023 Document type: Article Affiliation country: Country of publication:

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Biomedicines Year: 2023 Document type: Article Affiliation country: Country of publication: