Molecular diagnosis of monogenic diseases with high genetic heterogeneity is usually
challenging. In the case of limb-girdle muscular dystrophy, multiplex Western blot analysis is
a very useful initial step, but that often fails to identify the primarily affected protein. We report
how homozygosity analysis using a genome-wide SNP array allowed us to solve the
diagnostic enigma in a patient with a moderate form of LGMD, born from consanguineous
parents. The genome-wide scan performed on the patient's DNA revealed several regions of …