Mutations in PTRH2 cause novel infantile‐onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness
Annals of Clinical and Translational Neurology2014Vol. 1(12), pp. 1024–1035
Citations Over Time
Hao Hu, Michelle L. Matter, Lina Issa‐Jahns, Mayumi Jijiwa, Nadine Kraemer, Luciana Musante, Michelle de la Vega, Olaf Ninnemann, Detlev Schindler, Natalia Damatova, Katharina Eirich, Marco Sifringer, Sandra Schrötter, Britta J. Eickholt, Lambert van den Heuvel, Chanel Casamina, Gisela Stoltenburg‐Didinger, Hans‐Hilger Ropers, Thomas F. Wienker, Christoph Hübner, Angela M. Kaindl
Abstract
We report a novel disease phenotype, show that the genetic cause is a homozygous mutation in the PTRH2 gene, and demonstrate functional effects in mouse and human tissues. Mutations in PTRH2 should be considered in patients with undiagnosed multisystem neurologic, endocrine, and pancreatic disease.
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