Fig. 2.

Patient mutations found by UCDS. Patient 9: in the dystrophin gene at cDNA base 8,038, a C in the consensus sequence is replaced by a T in the patient's DNA. This creates a stop codon, resulting in loss of the protein and its function. Patient 174: in the dystrophin gene, the inserted A causes an out-of-frame reading frame, leading eventually to a stop codon and loss of the protein and its function. Patient 343: same as patient 9, but at c829. Patient 383: the inserted sequence causes an out-of-frame reading frame in the dystrophin gene. Patient 2664.1: in the caveolin-3 gene, a C in the consensus sequence is changed to an A. This mis-sense mutation causes an amino acid change from asparagine to glutamate, causing LGMD1C as described by Fischer et al. (2003)