Clinical Domain Working Groups

With the advancement of genomic technologies, many new genes have been described in patients with different types of congenital myopathies and are being included in next-generation sequencing panels by clinical laboratories.  With a growing concern for the level of certainty for those genes in respect to their gene:disease relationship, the Congenital Myopathy Expert Panel is focused on curating those genes and variants that have been associated with congenital myopathies. (Coming Soon)