Whole Exome sequencing of four family members affected by Limb-girdle muscular dystrophies (LGMD) with autosomal dominant transmission
Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous  conditions. We investigated a large family with autosomal dominant transmission  pattern, previously classified as LGMD1F and mapped to chromosome 7q32. Affected  members are characterized by muscle weakness affecting earlier the pelvic girdle and  the ileopsoas muscles. We sequenced the whole exome of four family members and  identified a shared heterozygous frame-shift variant in the Transportin 3 (TNPO3)  gene, encoding a member of the importin-ß super-family.