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.

Melissa Goddard (1) , David Mack , Stefan Czerniecki , Valerie Kelly , Jessica Snyder , Robert Grange (2) , Michael Lawlor , Barbara Smith , Alan H. Beggs (3) , Martin K. Childers (4)

1 INTEGRARE - Approches génétiques intégrées et nouvelles thérapies pour les maladies rares
2 LAM - Laboratoire d'Astrophysique de Marseille
3 Genomics Program and Division of Genetics
4 Wake Forest University

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.

Keywords: Animal models; dog; muscle disease; muscular dystrophy; myopathy; myotubular myopathy

Domains: Life Sciences [q-bio]

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⟩