Neurol Genet 2021 Jun 26;7(3):e589. Epub 2021 Apr 26.
Division of Neurology and Developmental Neuroscience (D.G.C., I.H., D.P., T.L.), Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital (D.G.C., I.H., D.P., J.R.L.), Houston, TX; Department of Molecular and Human Genetics (D.G.C., J.F., I.H., Z.C.A., H.D., R.A.G., D.M., D.P., J.E.P., J.R.L.), Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center (S.N.J., R.A.G., J.R.L.), Baylor College of Medicine, Houston, TX; Department of Pediatrics (D.M.), Faculty of Medicine, Kuwait University, Safat, Kuwait; Division of Child and Adolescent Neurology (P.M.), Department of Pediatrics, University of Texas Health Science Center, Houston, TX; Pathology and Laboratory Medicine (M.B.B.), University of Texas Health Science Center at Houston-McGovern Medical School, Houston, TX; and Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, TX.
Objective: Pathogenic variants in , the gene encoding fast skeletal muscle troponin T, were first described in autosomal dominant distal arthrogryposis type 2B2. Recently, a homozygous splice site variant, c.681+1G>A, was identified in a patient with nemaline myopathy and distal arthrogryposis. Read More