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A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. (2021)

First Author: Baty K

Attributed to: MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.nmd.2021.05.014

PubMed Identifier: 34325999

Publication URI: http://europepmc.org/abstract/MED/34325999

Type: Journal Article/Review

Volume: 31

Parent Publication: Neuromuscular disorders : NMD

Issue: 11

ISSN: 0960-8966