Mutations in POGLUT1 (protein O‐glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function have been recently identified as causing a new type of limb-girdle muscular dystrophy, known as LGMD2Z. The clinical features of the identified patients encompassed variable clinical onset from 1st to 5th decade, muscle weakness predominantly in the proximal lower limbs, followed by upper limb involvement and wheelchair confinement. We report a Bulgarian family with three affected sisters, homozygous for R98W mutation in POGLUT1. They underwent neurological examination, electromyography, measurement of creatine kinase, ventilatory assessment, electrocardiography, echocardiography and muscle muscle magnetic resonance imaging (MRI). The initial complaints in two of them were noticed at the age of 24-25 years, while in the third- at the age of 44 years. The leading symptoms at onset were muscle weakness in the proximal leg muscles with difficulties in climbing stairs and getting up from squatting position. The involvement of the upper limbs was noticed between 6 and 23 years after the lower limb weakness. CK was within normal range in all three affected. The cardiac function seamed spared, mild restrictive respiratory involvement was observed in only one of the sisters. MRI of the legs revealed early fatty replacement of internal regions of thigh muscles and sparing of the external areas. In conclusion POGLUT1 mutations are associated with late onset AR LGMD with specific MRI pattern of inside-to-outside mode of fatty degeneration in the lower limbs.