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Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families

Cemile Kocoglu1, Asli Gundogdu1, Gulsen Kocaman1

  • 1Suna and Inan Kirac Foundation (C.K., A.G., A.N.B.), Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Bogazici University, Istanbul, Turkey; Department of Neurology (G. Kocaman), Medical Faculty, Bezmialem Vakif University, Turkey; Department of Neurology (P.K.-K., K.U.), Faculty of Medicine, Marmara University, Istanbul, Turkey; Department of Neurology (G. Kiziltan), Cerrahpasa Faculty of Medicine, Istanbul University, Turkey; Department of Medical Genetics (A.O.C.), School of Medicine, Istanbul Bilim University, Turkey; Yale Program on Neurogenetics (A.O.C.), Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, CT; Department of Genetics (K.B.), Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT; and Department of Neurology (A.V.), Koc University Hospital, Istanbul, Turkey.

Neurology. Genetics
|January 31, 2018
PubMed
Abstract

No abstract available in PubMed .

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