Article

In Troyer syndrome Spartin loss induces Complex I impairments and alters pyruvate metabolism

2018-12-06

Abstract excerpt

Growth delay and retardation are complex phenotypes which can results by a range of factors including genetics variants. We identified a novel homozygous frameshift mutation, c.892dupA, in SPART gene, in two brothers with short stature and psychomotor retardation, born from healthy consanguineous parents. Mutations in SPART are the cause of Troyer syndrome, an autosomal recessive form of spastic paraplegia resul...

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Literature Corpus work: 0b045c56-9889-52cb-ad05-04c401ee4fbb
DOI: 10.1101/488239

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