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

Autor: Roberto Brian, Mauricio Sittenfeld, Keith J. Johnson, Xi Lin, Fernando Morales, Melissa Vásquez, Tetsuo Ashizawa, Patricia Cuenca, Gerardo Del Valle

Publikováno v: Revista de Biología Tropical, Volume: 56, Issue: 1, Pages: 1-11, Published: MAR 2008
Revista Biología Tropical, vol.56(1), pp. 1-11.
Kérwá
Universidad de Costa Rica
instacron:UCR
Revista de Biología Tropical, Vol 56, Iss 1, Pp 1-11 (2008)
Revista de Biología Tropical; Vol. 56 No. 1 (2008): Volume 56 – Regular number 1 – March 2008
Revista de Biología Tropical; Vol. 56 Núm. 1 (2008): Volumen 56 – Número regular 1 – Marzo 2008
Revista Biología Tropical; Vol. 56 N.º 1 (2008): Volumen 56 – Número regular 1 – Marzo 2008
Portal de Revistas UCR

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

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