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 | BMC Medical Genetics | Full Text

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 | BMC Medical Genetics | Full Text

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...

Authors:Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao and Hui Lu

Citation:BMC Medical Genetics 2019 20:204

Content type:Case report

Published on: 30 December 2019

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