oculopharyngeal muscular dystrophies การใช้

Ptosis that is caused by a disease may improve if the disease is treated successfully, although some related diseases, such as oculopharyngeal muscular dystrophy currently have no treatments or cures.
The expansion caused by the mutations on the PABPN1 gene ultimately interrupts the cellular mechanics of poly ( A ) RNA . In most cases oculopharyngeal muscular dystrophy is inherited via autosomal dominance.
The PABPN1 mutation contains a GCG trinucleotide repeat at the 5'end of the coding region, and expansion of this repeat which then leads to autosomal dominant oculopharyngeal muscular dystrophy ( OPMD ) disease.
"' Oculopharyngeal muscular dystrophy "'( "'OPMD "') is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old.
An expansion of the trinucleotide ( GCN ) repeat from normal 10 to 11-17 at the 5'end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy ( OPMD ) disease.