Figure 1. Mutations in DNAJB6 Cause LGMD1D.

(A) An American family of Northern European descent with LGMD1. Exome sequencing was performed in individuals marked with a red asterisk, Sanger sequencing in those with a black asterisk. Proband is indicated by black arrowhead. Affected individuals are colored black and white to indicate dominant inheritance.

(B) A c.265T>A mutation was discovered only in affected patients in the DNAJB6 gene, resulting in a p.Phe89Ile amino acid substitution.