Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region

• मुख्य लेखकों: Rukhsana Hassan (लेखक), Gh Rasool Bhat (लेखक), Feroze Ahmad Mir (लेखक), Hilal Ahmad Ganie (लेखक), Ifra Mushtaq (लेखक), Mushtaq Ahmad Bhat (लेखक), Ravouf Parvez Asimi (लेखक), Dil Afroze (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2024-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which inevitably results in a deficiency of th...