Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Matias WagnerJonathan LévySabine Jung-KlawitterSomayeh BakhtiariFabiola MonteiroReza MaroofianTatjana BierhalsMaja HempelMonique Elmaleh-BergèsJoao P KitajimaChong A KimJulia G SalomaoDavid J AmorMonica S CooperLaurence PerrinEva PipirasAxel NeuMohammad DoostiEhsan G KarimianiMehran B ToosiHenry HouldenSheng Chih JinYue C SiLance H RodanHanka VenselaarMichael C KruerFernando KokGeorg F HoffmannTim M StromSaskia B WortmannAnne-Claude TabetThomas OpladenPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
We establish TNR as a disease gene for an autosomal recessive nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus and highlight the role of central nervous system extracellular matrix proteins in the pathogenicity of spastic disorders.
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