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Article

Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits.

Journal of neuromuscular diseases - 1 Jan 2021

Thiruvengadam Girija, Sreetama Sen Chandra, Charton Karine, Hogarth Marshall, Novak James S, Suel-Petat Laurence, Chandra Goutam, Allard Bruno, Richard Isabelle, Jaiswal Jyoti K

Abstract excerpt

Mutations in the Anoctamin 5 (Ano5) gene that result in the lack of expression or function of ANO5 protein, cause Limb Girdle Muscular Dystrophy (LGMD) 2L/R12, and Miyoshi Muscular Dystrophy (MMD3). However, the dystrophic phenotype observed in patient muscles is not uniformly recapitulated by ANO5 knockout in animal models of LGMD2L. Here we describe the generation of a mouse model of LGMD2L generated by...

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Identifiers

PMID: 34633328
DOI: 10.3233/JND-210720
PMCID: PMC8673513

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