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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| 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 |