Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation

Pediatric Research - Tập 39 Số 5 - Trang 914-917 - 1996
Filippo M. Santorelli1, Suk-Chun Mak1, Marta Elisa Vázquez-Memije1, Sara Shanske1, Pamela Kranz‐Eble2, Karen Jain3, Daniel L. Bluestone4, Darryl C. De Vivo5, Salvatore DiMauro1
1Department of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University, New York, 10032, New York
2Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, 10032, New York
3Childrens Hospital, Los Angeles, Los Angeles, California
4Department of Pediatrics, University of California San Francisco, San Francisco, 94143, California
5Department of Pediatrics, Columbia University, New York, 10032, New York

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