Our patients included 5 males and 4 females. The age at presentation varied from 1.5 years to 7 years (median age - 3 years). Initial symptom was a delayed acquisition of gross motor developmental milestones in 8 patients and recurrent falls in one. Language delay was noted in 2, both of whom had periventricular white matter changes on brain MRI. Macroglossia, scapular winging and facial weakness were noted in 1, 3 and 4 patients respectively. Calf muscle hypertrophy was seen in 8 patients and ankle contractures in 6. Selective involvement of the quadriceps and gluteus maximus was seen in most cases. At last follow-up 3 patients had lost ambulation (median age - 7 years ; range 6.5 – 9 years) and 3 patients had not attained independent ambulation. The mean creatine kinase level was 12,120 U/L (range 2793 to 32,396 U/L)
Parental consanguinity was present in 6 patients. 2 patients had affected siblings. The most common mutation noted in our cohort was c.1343C>T seen in 5 patients. Other mutations noted were c.646C>T, c.650C>A, c.160C>T, c.933_934del : which are classified as pathogenic or likely pathogenic and c.1060_1061 inv, c.1136G>C : which are classified as variants of uncertain significance as per ACMG guidelines.
Overall 6 patients had an LGMD R9 phenotype and 3 had a congenital muscular dystrophy phenotype.