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Article

Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Dec 2021

Saeed Muhammad, Fawzy Walid, Al-Tala Saeed, Magid Tayseer Adel, Ahmed Hala

Abstract excerpt

Spinal muscular atrophy (SMA) with respiratory distress type 1 (SMARD1) is an exceptionally rare type of SMA. It results from disintegration of alpha motor neurons of the spinal cord. Clinically, children affected with this disorder present between the age of six weeks to six months with respiratory distress and hypotonia. Most of the children die before the age of 13 months. Here, we report a new variant in a...

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PMID: 34794294
DOI: 10.29271/jcpsp.2021.12.1494

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