Mutational analysis of COASY in an Italian patient with NBIA

Parkinsonism Relat Disord. 2016 Jul:28:150-1. doi: 10.1016/j.parkreldis.2016.03.011. Epub 2016 Mar 18.

Authors

Grazia Annesi¹, Monica Gagliardi², Grazia Iannello², Aldo Quattrone², Grazia Iannello³, Aldo Quattrone³

Affiliations

¹ Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy. Electronic address: [email protected].
² Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
³ Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

PMID: 27021474
DOI: 10.1016/j.parkreldis.2016.03.011

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
DNA / genetics
DNA Mutational Analysis
Female
Humans
Iron Metabolism Disorders / genetics*
Italy
Mutation* / genetics
Neuroaxonal Dystrophies / genetics*
Pedigree
Transferases / genetics*

Substances

DNA
Transferases
COASY protein, human

Supplementary concepts

Neurodegeneration with brain iron accumulation (NBIA)