Determination of exon 7 SMN1 deletion in Iranian patients and heterozygous carriers by quantitative real-time PCR

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by the degeneration of motor neurons of the spinal cord anterior horns, leading to progressive atrophy of proximal muscles, paralysis, respiratory failure, and even infant death. Patients with SMA are classified into three types, based on the age at onset and clinical severity (Munsat and… (More)
DOI: 10.1007/s12041-011-0038-1

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