Work

Homozygous and Compound Heterozygous Mutations in the CLCN1 Gene Causes Myotonia in Two Related Saudi Families (P2-11.032)

Year: 2025

Type: article

Source: Neurology

DOI: 10.1212/wnl.0000000000209095

Authors: Serena Pagliarani, Alwaleed Alabdulwahed, Edoardo Monfrini, Sabrina Lucchiari, Giacomo Comi, Alessio Di Fonzo, Aawadh AlAhmari, Ahmed Abulaban, Wafaa AlEyaid

Institutions: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, King Abdulaziz Medical City, National Guard Health Affairs, University of Milan

Language: English

Topic: Ion channel regulation and function

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4409234697

FWCI:

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Related to: 10