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SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration-Myositis Complex (CDMC).

Genes - 9 Jul 2022

Christen Matthias, Rupp Stefan, Van Soens Iris, Bhatti Sofie F M, Matiasek Kaspar, von Klopmann Thilo, Jagannathan Vidhya, Madden Indiana, Batcher Kevin, Bannasch Danika, Leeb Tosso

Abstract excerpt

We investigated two litters of distantly related Nova Scotia Duck Tolling Retrievers (NSDTR), of which four puppies were affected by cerebellar signs with or without neuromuscular weakness. The phenotype was termed cerebellar degeneration—myositis complex (CDMC). We suspected a heritable condition and initiated a genetic analysis. The genome of one affected dog was sequenced and compared to 565 control genomes....

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Identifiers

PMID: 35886006
DOI: 10.3390/genes13071223
PMCID: PMC9319113

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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