Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

@article{Mazn2012ScreeningFM,
  title={Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.},
  author={Mar{\'i}a Jos{\'e} Maz{\'o}n and Francisco Barros and Pilar de la Pe{\~n}a and Juan F Quesada and Adela Escudero and Ana Mar{\'i}a Cobo and Samuel Ignacio Pascual-Pascual and Eduardo Guti{\'e}rrez-Rivas and Encarna Guill{\'e}n and Javier Arpa and Pilar Eraso and Francisco Portillo and Jes{\'u}s Molano},
  journal={Neuromuscular disorders : NMD},
  year={2012},
  volume={22 3},
  pages={231-43}
}
Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out of them carrying mutations in CLCN1 gene and eight carry mutations in SCN4A gene. We have found 26 different mutations in CLCN1 gene, including 13 not reported previously. Among those 26 mutations, c.180+3A>T in intron 1 is present in nearly one half of the Spanish families in this series, the largest one… CONTINUE READING

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