Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients

Milla, Carmen Palma; Castro, Carmen Prior De; Clara, Gómez-González; Paloma, Martínez-Montero; Samuel, I. Pascual Pascual; Jesús, Molano Mateos.

J Genet ; 2019 Jul; 98: 1-10

Article | IMSEAR | ID: sea-215423

Key words

myotonia congenita; founder effect; paramyotonia congenita; CLCN1 gene.

Full text: 1 Index: IMSEAR Journal: J Genet Year: 2019 Type: Article

Full text: 1 Index: IMSEAR Journal: J Genet Year: 2019 Type: Article