MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients

Egyptian Journal of Medical Human Genetics

Table 1 Number and gender of the studied patients (n = 236) and the patients with confirmed molecular diagnosis (n = 148) in the four clinical SMA types

	All studied patients			SMA patients with homozygous deletion of SMN1 gene
	Number	Gender		Number	Gender
	Number	Female	Male	Number	Female	Male
SMA type 1	32 (13.6%)	15	17	25 (16.9%)	13	12
SMA type 2	78 (33.1%)	37	41	52 (35.1%)	26	26
SMA type 3	114 (48.3%)	47	67	69 (46.6%)	25	44
SMA type 4	12 (5.1%)	5	7	2 (1.4%)	1	1
Total	236 (100%)	104 (44.1%)	132 (55.9%)	148 (100%)	65 (43.9%)	83 (56.1%)