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Lafora disease: a case report

BACKGROUND: Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized by Lafora bodies in tissues such as b...

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Detalles Bibliográficos
Autores principales: Zeka, Naim, Zogaj, Leonore, Gerguri, Abdurrahim, Bejiqi, Ramush, Ratkoceri, Ragip, Maloku, Arlinda, Mustafa, Aferdita, Shahini, Labinot, Maxharaj, Jeton
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528140/
https://www.ncbi.nlm.nih.gov/pubmed/36192771
http://dx.doi.org/10.1186/s13256-022-03537-x