Table 1. Baseline characteristics and clinical summary of DMD patient and the female carriers.

Subject	Age at diagnosis	CK levels, U/l	Exon-Deletion pattern (MLPA)	Clinical diagnosis	Clinical information
Patient (DF1)	5 years	9432	Hemizygous pathogenic deletion encompassing exons 46–50	DMD	- Average motor, mental, and speech development bilateral calf muscle pseudohypertrophy, positive Gower’s sign, and weakness of gluteal, thigh, gastrocnemius, paraspinal, deltoid and biceps brachii muscles -Ambulation loss at age of 10 -Dilated cardiomyopathy at age of 12
Mother (DF2)	-	Normal	Heterozygous pathogenic deletion encompassing exons 46–50	DMD carrier	- Clinically free/asymptomatic
Elder sister (DF3)	20 years	500	Heterozygous pathogenic deletion encompassing exons 46–50	DMD carrier	-Pains and cramps in both the thighs -Bilateral calf pseudohypertrophy
Younger sister (DF4)	2 years	3392	Heterozygous pathogenic deletion encompassing exons 46–50	DMD carrier	- Delayed motor development - Poor scholastic achievement/borderline IQ - Outbursts of anger and abnormal behavior - No calf pseudohypertrophy - Intact deep tendon reflexes