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; David Mack; Stefan Czerniecki; Valerie Kelly; Jessica Snyder; Robert Grange; Michael Lawlor; Barbara Smith; Alan Beggs; Martin Childers

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 Beggs ³ Martin 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

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.

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

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

Complete list of metadatas

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

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.

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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.

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