- A novel nemaline myopathy in the Amish caused by a mutation in troponin T1J J Johnston
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA
Am J Hum Genet 67:814-21. 2000..We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1...
- Discordant PKU phenotype in one family due to disparate genotypes and a novel mutationJ J Johnston
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
J Inherit Metab Dis 27:157-63. 2004....