Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

BACKGROUND: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular diagnosis is based on gene panel testing or whole-exome/genome sequencing. METH...

Descripción completa

Detalles Bibliográficos
Autores principales: McMacken, Grace, Lochmüller, Hanns, Bansagi, Boglarka, Pyle, Angela, Lochmüller, Angela, Chinnery, Patrick F., Laurie, Steve, Beltran, Sergi, Matalonga, Leslie, Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674332/
https://www.ncbi.nlm.nih.gov/pubmed/32656641
http://dx.doi.org/10.1007/s00415-020-10059-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674332/
https://www.ncbi.nlm.nih.gov/pubmed/32656641
http://dx.doi.org/10.1007/s00415-020-10059-3

Ejemplares similares