Fig.2.

Identification of a homozygous nonsense mutation in MYO18B. A) Pedigree of the consanguineous family. B) Chromatopherograms showing the segregation of the MYO18B c.6496G>T mutation. Both healthy parents (1 and 2) are heterozygous carriers of the MYO18B mutation; the patient (3) is homozygous. C) RT-PCR analysis of skeletal muscle cDNA. The MYO18B amplicon encompassing the MYO18B mutation was detected at comparable levels in the patient and an age-matched control. A NEB amplicon of similar size was used as internal control.