Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.

Abstract : Loss-of-function mutations in the myotubularin (MTM1) gene cause X-linked myotubular myopathy (XLMTM), a fatal, inherited pediatric disease that affects the entire skeletal musculature. Labrador retriever dogs carrying an MTM1 missense mutation exhibit strongly reduced synthesis of myotubularin, the founder member of a lipid phosphatase required for normal skeletal muscle function. The resulting canine phenotype resembles that of human patients with comparably severe mutations, and survival does not normally exceed 4 months.
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https://hal-univ-evry.archives-ouvertes.fr/hal-02179365
Contributor : Melissa Goddard <>
Submitted on : Wednesday, July 10, 2019 - 4:49:09 PM
Last modification on : Wednesday, August 21, 2019 - 11:02:06 AM

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Melissa Goddard, David Mack, Stefan Czerniecki, Valerie Kelly, Jessica Snyder, et al.. Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.. Annals of translational medicine, AME Publishing Company, 2015, 3 (18), pp.262. ⟨10.3978/j.issn.2305-5839.2015.10.31⟩. ⟨hal-02179365⟩

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