Unfortunately, the known causative genes of myopathy with rimmed vacuoles, such as GNE , MYH2 , VCP , PABPN1
, TTN , TIA1 , and so on were excluded by the whole-exome sequencing.
A sua avaliacao conta com dados da manometria e do estudo de contraste radiologico, porem o diagnostico de seguranca e obtido pelo estudo genetico PABPN1
, observando-se o gene do cromossoma 14 .
2, cycle sequencing of exon 1 of the PABPN1
gene of the three patients (III:14, III: 17 and III: 18) from whom blood samples were available revealed that they were heterozygous for a [(GCG).