Homozygous and Compound Heterozygous Mutations in the CLCN1 Gene Causes Myotonia in Two Related Saudi Families (P2-11.032)
The aim of this project was to find the genetic cause of a classic myotonic phenotype in a consanguineous family in which traditional Sanger sequencing and novel next-generation sequencing (NGS) found no pathogenic variants.
Authors
- Serena Pagliarani (ORCID: https://orcid.org/0000-0002-7145-1998)
- Sabrina Lucchiari (ORCID: https://orcid.org/0000-0002-6189-4461)
- Giacomo P. Comi (ORCID: https://orcid.org/0000-0002-1383-5248)
- Edoardo Monfrini (ORCID: https://orcid.org/0000-0003-4720-9234)
- Alessio Di Fonzo (ORCID: https://orcid.org/0000-0001-6478-026X)
- Ahmed A. Abulaban
- A Alahmari
- Alwaleed Alabdulwahed
- Wafaa AlEyaid
Institutions
- University of Milan (IT)
- King Abdulaziz Medical City (SA)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Maggiore (IT)
- Ferrari (Italy) (IT)
- National Guard Health Affairs (SA)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000209095
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00