Background: The spinal muscular atrophy (SMA) is an autosomal recessive hereditary neuromuscular disease, categorized into 4 types according to the severity. Type 2 considered intermediate form. There are three medication options approved by ANVISA for SMA treatment: Spinraza, Ridisplam and Zolgensma.

conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...

Mental retardation (MR) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. The recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive MR. Recessive genetic disorders are common in Pakistan due...