Clinical, genetic, and pathologic characterization of <i>FKRP</i> Mexican founder mutation c.1387A&gt;G

Abstract

The clinical features and muscle pathology in these newly reported patients homozygous for <i>FKRP</i> c.1387A>G confirm that this mutation causes congenital muscular dystrophy. The clinical severity might be explained by the greater reduction in α-DG glycosylation compared with that seen with the c.826C>A mutation. The shared region of homozygosity at 19q13.32 indicates that <i>FKRP</i> c.1387A>G is a founder mutation with an estimated age of 60 generations (∼1,200-1,500 years).