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Article

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.

Skeletal muscle - 7 Jan 2021

Mickelson James R, Minor Katie M, Guo Ling T, Friedenberg Steven G, Cullen Jonah N, Ciavarella Amanda, Hambrook Lydia E, Brenner Karen M, Helmond Sarah E, Marks Stanley L, Shelton G Diane

Abstract excerpt

BACKGROUND: A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified. METHODS: Muscle biopsy histopathology, immunofluorescence microscopy, and western blotting were combined to identify the specific pathologic phenotype of the myopathy, and whole genome SNP array genotype data and whole...

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Identifiers

PMID: 33407862
DOI: 10.1186/s13395-020-00257-y
PMCID: PMC7789357

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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