Autosomal recessive limb-girdle muscular dystrophy type R28 (LGMDR28; OMIM #620375) is a recently identified subtype of limb-girdle muscular dystrophy with 15 individuals from six unrelated families carrying biallelic variants in the HMGCR gene reported to date.
Here we describe 10 individuals from five unrelated Middle Eastern families diagnosed with LGMDR28, all carrying homozygous HMGCR variants.
This study consolidates the disease-causing role of HMGCR in LGMDR28, illustrates a wide range of symptom onset from birth to the fourth decade, and suggests the value of liver function monitoring in patients diagnosed with LGMDR28.