Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder threating hundreds of thousands of lives worldwide. And the severity of SMA differs among different clinical types, which has been demonstrated to...

Source: BMC Medical Genetics - December 30, 2019 Category: Genetics & Stem Cells Authors: Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao and Hui Lu Tags: Case report Source Type: research