Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.
Anwar UllahZhaohan LinMuhammad YounusSarfraz ShafiqShazia KhanMemoona RasheedArif MahmoodAmany I AlqosaibiMohammed Ali AlshehriAmjad KhanMuhammad UmairPublished in: The journal of gene medicine (2022)
The present study confirms the role of POPDC3 in LGMD, and will facilitate genetic counseling of the family to mitigate the risks of the carrier or affects on future pregnancies.