Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.
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M. Lyons | F. Sangiuolo | R. Durón | K. Holden | I. Molinero
[1] G. Holmgren,et al. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia , 2001, European Journal of Human Genetics.
[2] S. Cannon,et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. , 2010, Brain : a journal of neurology.
[3] Christoph Lossin,et al. Myotonia congenita. , 2008, Advances in genetics.
[4] D. Kullmann,et al. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. , 2007, Brain : a journal of neurology.
[5] T. Kurihara. New classification and treatment for myotonic disorders. , 2005, Internal medicine.
[6] M. Schwartz,et al. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype , 2004, European Journal of Human Genetics.
[7] S. Cannon,et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. , 2002, Molecular cell.
[8] S. Sheela. Myotonia congenita: response to carbamazepine. , 2000, Indian pediatrics.
[9] E. Hoffman,et al. Myotonia and the muscle chloride channel , 1996, Neurology.
[10] A. George,et al. Molecular basis for decreased muscle chloride conductance in the myotonic goat. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[11] F. Lehmann-Horn,et al. Novel muscle chloride channel mutations and their effects on heterozygous carriers. , 1996, American journal of human genetics.
[12] M. Koch,et al. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. , 1995, American journal of human genetics.
[13] M. Koch,et al. Multimeric structure of ClC‐1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). , 1994, The EMBO journal.
[14] M. Crackower,et al. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita) , 1993, Nature Genetics.
[15] K. Grzeschik,et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. , 1992, Science.
[16] J. Turner. On amyotonia congenita. , 1949, Brain : a journal of neurology.