Congenital myopathy 2B, severe infantile, autosomal recessive – 620265
?Myopathy, scapulohumeroperoneal – 616852
Congenital myopathy 2C, severe infantile, autosomal dominant – 620278
Congenital myopathy 2A, typical, autosomal dominant – 161800
Actin, alpha-1, skeletal muscle
58