Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

Authors :: John Vissing
Bo Hjorth Bentzen
Nicole Schmitt
Federico Denti
Christine Kring Sloth
David Gaist
Christina Fagerberg
Source :: Sloth, C K, Denti, F, Schmitt, N, Bentzen, B H, Fagerberg, C, Vissing, J & Gaist, D 2018, ' Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression ', Neurology: Genetics, vol. 4, no. 5, pp. e267 . https://doi.org/10.1212/NXG.0000000000000267, Neurology: Genetics, Sloth, C K, Denti, F, Schmitt, N, Bentzen, B H, Fagerberg, C, Vissing, J & Gaist, D 2018, ' Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression ', Neurology: Genetics, vol. 4, no. 5, e267 . https://doi.org/10.1212/NXG.0000000000000267
Publication Year :: 2018
Abstract: Congenital myopathy has recently been associated with biallelic pathogenic variants in the SCN4A gene that encodes the voltage-dependent sodium channel NaV1.4.1,2 In 13 previously reported cases,1,2 7 died in utero or shortly after birth. The 6 survivors showed features consistent with “classical” congenital myopathy. Here, we report 2 new familial cases with variable phenotype.

Language :: English
Database :: OpenAIRE
Journal :: Sloth, C K, Denti, F, Schmitt, N, Bentzen, B H, Fagerberg, C, Vissing, J & Gaist, D 2018, ' Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression ', Neurology: Genetics, vol. 4, no. 5, pp. e267 . https://doi.org/10.1212/NXG.0000000000000267, Neurology: Genetics, Sloth, C K, Denti, F, Schmitt, N, Bentzen, B H, Fagerberg, C, Vissing, J & Gaist, D 2018, ' Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression ', Neurology: Genetics, vol. 4, no. 5, e267 . https://doi.org/10.1212/NXG.0000000000000267
Accession number :: edsair.doi.dedup.....29e18a40de66d66abc3f6a6e7af7826b
Full Text :: https://doi.org/10.1212/NXG.0000000000000267

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