Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene

Figure 1

LGMD study cohort. (a) Distribution of patient age at genetic testing (<10 yrs, 10-20 yrs, and >20 yrs). (b) Most common OMIM term assigned to the patient in our study cohort. LGMDR1, LGMDR4, LGMDR2, and MMD1 are the most common symptoms/phenotype reported in the patient. (c) Frequency of pathogenic variant identified in 25 genes. (d) Gene reported and age of patient at genetic testing. Pathogenic variants in POMGNT1, COL6A1/2, and POMT1 genes are found in younger affected individuals (<10 yrs) whereas pathogenic variants in DYSF, CAPN3, LAMA2, and TTN genes are found in individuals with .

(a)

(b)

(c)

(d)