Homozygote Deletion of Fukutin Gene (FKTN) Exon 3 Causes Dilated Cardiomyopathy and Mild Limb-Girdle Muscular Dystrophy without Brain Involvement

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Background: FKTN mutations (MIM607440) cause three different forms of muscular dystrophy-dystroglycanopathy: a severe congenital form with brain and eye anomalies (MIM253800; Fukuyama congenital muscular dystrophy = FCMD); a less severe congenital form without intellectual disability (MIM613152); and a milder limb-girdle form (MIM611588). In addition, FKTN mutations can also cause dilated cardiomyopathy (CMD1X; MIM611615) with or without limb-girdle muscle involvement.