Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia

Muscle Nerve. 2017 Jun;55(6):E24-E25. doi: 10.1002/mus.25407. Epub 2017 Mar 26.

Affiliations

¹ Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.
² Clinica Neurologica, Azienda Ospedaliera-Università di Perugia, Perugia, Italy.
³ A. Meyer Children's University Hospital, Florence, Italy.
⁴ Centro di Riferimento Regionale di Genetica Medica, Azienda Ospedaliera di Perugia, Perugia, Italy.

PMID: 27639085
DOI: 10.1002/mus.25407

No abstract available

Keywords: Becker disease; CLCN1; F484L; NGS; Thomsen myotonia.

Publication types

Case Reports

MeSH terms

Adult
Chloride Channels / genetics*
Family
Female
Genotype
Humans
Italy
Male
Myotonia Congenita / genetics*
Myotonia Congenita / pathology*
Pedigree
Phenotype

Substances

CLC-1 channel
Chloride Channels