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
Jiang J, Huang J, Gu J, Cai X, Zhao H, Lu H. 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 Genomics 2019, 20: 204. PMID: 31888525, PMCID: PMC6938020, DOI: 10.1186/s12881-019-0935-3.Peer-Reviewed Original ResearchConceptsSMA casesHeterozygous mutationsInternational SMA ConsortiumBackgroundSpinal muscular atrophyDifferent clinical typesRare neuromuscular disorderCopies of SMN2Compound heterozygous mutationsWhole-exome sequencingSeverity of SMAGenomic analysisFemale patientsMale patientsClinical typesCase reportAccurate counselingRare caseMouse modelDiagnostic criteriaMuscular functionPatientsGrowth differentiation factor 8Neuromuscular disordersSMA patientsMuscular atrophy