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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2020
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| Materias: | |
| 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 |