SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

Author:

Rebelo Adriana P1,Saade Dimah2,Pereira Claudia V3,Farooq Amjad4,Huff Tyler C3,Abreu Lisa1,Moraes Carlos T3,Mnatsakanova Diana2,Mathews Kathy2,Yang Hua5,Schon Eric A56,Zuchner Stephan1,Shy Michael E2

Affiliation:

1. Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA

2. Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA

3. Department of Neurology, University of Miami, Miami, USA

4. Biochemistry Department, University of Miami Miller School of Medicine, Miami, USA

5. Department of Neurology, Columbia University Medical Center, New York, USA

6. Department of Genetics and Development, Columbia University Medical Center, New York, USA

Funder

NCATS

INC

Muscular Dystrophy Association

NINDS

NIH

NICHD

Department of Defense

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Reference25 articles.

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