- Article
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
- Stefano Facchini,
- Natalia Dominik,
- Arianna Manini,
- Stephanie Efthymiou,
- Riccardo Currò,
- Bianca Rugginini,
- Elisa Vegezzi,
- Ilaria Quartesan,
- Benedetta Perrone and
- Andrea Cortese
- + 10 authors
A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy. The usual procedu...