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. - Université d'Évry
Article Dans Une Revue Annals of translational medicine Année : 2015

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.

Résumé

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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Dates et versions

hal-02179365 , version 1 (10-07-2019)

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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, 2015, 3 (18), pp.262. ⟨10.3978/j.issn.2305-5839.2015.10.31⟩. ⟨hal-02179365⟩
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