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Article

Mutations in COQ2 in familial and sporadic multiple-system atrophy.

The New England journal of medicine - 18 Jul 2013

Abstract excerpt

BACKGROUND: Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely considered to be a nongenetic disorder, we previously identified multiplex families with this disease, which indicates the involvement of genetic components....

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Source

Identifiers

PMID: 23758206
DOI: 10.1056/NEJMoa1212115

Genes

COQ2

Provenance

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