Article
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
Neurogenetics - 1 Aug 2018
Catania A, Battini R, Pippucci T, Pasquariello R, Chiapparini M L, Seri M, Garavaglia B, Zorzi G, Nardocci N, Ghezzi D, Tiranti V
Abstract excerpt
TFG (tropomyosin-receptor kinase fused gene) encodes an essential protein in the regulation of vesicular trafficking between endoplasmic reticulum and Golgi apparatus. The homozygous variant c.316C > T within TFG has been previously associated with a complicated hereditary spastic paraplegia (HSP) phenotype in two unrelated Indian families. Here, we describe the first Italian family with two affected siblings...
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