DELETION AND POINT MUTATION ANALYSIS OF THE SMN1 GENE IN PATIENTS WITH SPINAL MUSCULAR ATROPHY (SMA) IN WEST AZERBAIJAN PROVINCE OF IRANSpinal muscular atrophySMN1PCR-RFLPBackground & Aims: Spinal muscular atrophy (SMA) is a common disorder with autosomal recessive inheritance pattern. The frequency...
Type I SMA (Online Inheritance in Man (OMIM) database #253300) patients have an age of onset before 6 months and they present with limb weakness due to hypotonia and the inability to sit independently. Abnormal respiratory patterns have been observed in type I SMA infants due to weakness ...