Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in .

[This corrects the article DOI: 10.3389/fneur.2020.

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in .

The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene () has expanded with advancements in genetic testing. Autosomal dominant mutations were first linked to hyperkalemic periodic paralysis, then subsequently included paramyotonia congenita, several variants of myotonia, and finally hypokalemic periodic paralysis. Biallelic recessive mutations were later identified in myasthenic myopathy and in infants showing a severe congenital myopathy with hypotonia.

Myasthenic congenital myopathy from recessive mutations at a single residue in Na1.4.

Objective: To identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene, .

Methods: A combination of whole exome sequencing and targeted mutation analysis, followed by voltage-clamp studies of mutant sodium channels expressed in fibroblasts (HEK cells) and oocytes.

Results: Missense mutations of the same residue in the skeletal muscle sodium channel, R1460 of Na1.