Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3()

• We present a family that includes members with phenotypes of generalized epilepsy and limb-girdle muscular dystrophy. • Subjects with heterozygous mutation developed epilepsy; a subject with homozygous mutation developed limb-girdle dystrophy. • Mutations in CAPN3 may play a role in the complex ge...

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Detalles Bibliográficos
Autores principales: Viloria-Alebesque, Alejandro, Bellosta-Diago, Elena, Santos-Lasaosa, Sonia, Mauri-Llerda, José Ángel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460322/
https://www.ncbi.nlm.nih.gov/pubmed/31011535
http://dx.doi.org/10.1016/j.ebcr.2019.03.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460322/
https://www.ncbi.nlm.nih.gov/pubmed/31011535
http://dx.doi.org/10.1016/j.ebcr.2019.03.003

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