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Article

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels.

Neuromuscular disorders : NMD - 1 May 2020

Olby Natasha J, Friedenberg Steven, Meurs Kathryn, DeProspero Dylan, Guevar Julien, Lau Jeanie, Yost Oriana, Guo Ling T, Shelton G Diane

Abstract excerpt

The purpose of this study was to report the findings of clinical and genetic evaluation of a 3-month old male Boykin spaniel (the proband) that presented with progressive weakness. The puppy underwent a physical and neurological examination, serum biochemistry and complete blood cell count, electrophysiological testing, muscle biopsy and whole genome sequencing. Clinical evaluation revealed generalized...

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Identifiers

PMID: 32417001
DOI: 10.1016/j.nmd.2020.02.021
PMCID: PMC7532942

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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