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Journal articles
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.
https://hal-univ-evry.archives-ouvertes.fr/hal-02179365
Contributor : Melissa Goddard Connect in order to contact the contributor
Submitted on : Wednesday, July 10, 2019 - 4:49:09 PM
Last modification on : Wednesday, November 17, 2021 - 12:33:16 PM
Contributor : Melissa Goddard Connect in order to contact the contributor
Submitted on : Wednesday, July 10, 2019 - 4:49:09 PM
Last modification on : Wednesday, November 17, 2021 - 12:33:16 PM
