Published June 21, 2021
| Version v1
Publication
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
Description
Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take into consideration this possibility in patients presenting with unusual complex phenotypes or with unexpected electrophysiological findings. Here, we report a Spanish 11-month-old patient with spinal muscular atrophy type 2 and Charcot-Marie-Tooth 1A.
Additional details
- URL
- https://idus.us.es/handle//11441/114708
- URN
- urn:oai:idus.us.es:11441/114708
- Origin repository
- USE