Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

We identified the known c.1_9del mutation in the PLEC gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. A...

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Detalles Bibliográficos
Autores principales: Mroczek, Magdalena, Durmus, Hacer, Töpf, Ana, Parman, Yesim, Straub, Volker
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397187/
https://www.ncbi.nlm.nih.gov/pubmed/32605089
http://dx.doi.org/10.3390/genes11070716

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397187/
https://www.ncbi.nlm.nih.gov/pubmed/32605089
http://dx.doi.org/10.3390/genes11070716

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