Journal article
Mitochondrial diseases in North America: An analysis of the NAMDC Registry
Abstract
OBJECTIVE: To describe clinical, biochemical, and genetic features of participants with mitochondrial diseases (MtDs) enrolled in the North American Mitochondrial Disease Consortium (NAMDC) Registry.
METHODS: This cross-sectional, multicenter, retrospective database analysis evaluates the phenotypic and molecular characteristics of participants enrolled in the NAMDC Registry from September 2011 to December 2018. The NAMDC is a network of 17 …
Authors
Barca E; Long Y; Cooley V; Schoenaker R; Emmanuele V; DiMauro S; Cohen BH; Karaa A; Vladutiu GD; Haas R
Journal
Neurology Genetics, Vol. 6, No. 2,
Publisher
Wolters Kluwer
Publication Date
April 2020
DOI
10.1212/nxg.0000000000000402
ISSN
2376-7839