Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many ye...

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Bibliographic Details
Main Authors: Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian, Mauricio Sittenfeld, Keith Johnson, Xi Lin, Tetsuo Ashizawa
Format: Article
Language:English
Published: Universidad de Costa Rica 2008-03-01
Series:Revista de Biología Tropical
Subjects:
miotonía congenita
distrofia miotónica
miotonía de Becker
canalopatía de cloruro
SSCP
myotonia congenita
myotonic dystrophy
Becker myotonia
chloride channelopathy
Online Access:http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442008000100001

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http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442008000100001

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