Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.

Subjects

Subjects :

Humans
Male
Female
Child
Mutation
Age of Onset
Pedigree
Muscular Diseases genetics

Details

Language :

English

ISSN :

1460-2156

Volume :

147

Issue :

7

Database :

MEDLINE

Journal :

Brain : a journal of neurology

Publication Type :

Report

Accession number :

38637313

Full Text :

https://doi.org/10.1093/brain/awae099