Targeted gene under study:
OMIM * 60790
Abstract
Recently, biallelic variants in SNUPN have been related with a new disorder mainly characterised by a muscular dystrophy with contractures and protein aggregates in muscle biopsy. We aim to continue studying and expanding SNUPN-related disorders through phenotypical and genetic characterisation as well as completing additional functional studies to understand the underlying mechanism. We plan to collect clinical, genetical, imaging and histological data of these patients and, when available, to collect patients’ derived samples as fibroblasts or muscle.
Coordinating clinicians
Pablo Iruzubieta – pablo.iruzubieta@hotmail.es
Institution
Neurology, Donostia University Hospital, San Sebastian, Spain
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes
3- Linked to a translational/basic research project: Yes