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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.

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression