Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report

• Main Authors: Ba, Zilfalil, Ms, Watihayati, My, Rozainah, R, Sutomo, H, Nishio, M, Matsuo, Hussin, Zabidi
• Format: Article
• Language: English
• Published: 2003
• Subjects: R735-854 Medical education. Medical schools. Research
• Online Access: http://eprints.usm.my/11591/1/Genetically_Confirmed_Spinal_Muscular_Atrophy_Type_3_%28PPSPergigian%29.pdf; http://eprints.usm.my/11591/

Spinal Muscular Atrophy (SMA) is an autosomal recessive disease affecting the anterior horn cells of the spinal cord. The diagnosis is usually based on the clinical presentation with or without muscle biopsy and the molecular detection of mutation in the SMNI gene. There have been a few reported cas...