Erratum to 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.
نویسندگان
چکیده
[This corrects the article on p. 262 in vol. 3, PMID: 26605308.].
منابع مشابه
Gait characteristics in a canine model of X-linked myotubular myopathy.
X-linked myotubular myopathy (XLMTM) is a fatal pediatric disease where affected boys display profound weakness of the skeletal muscles. Possible therapies are under development but robust outcome measures in animal models are required for effective translation to human patients. We established a naturally-occurring canine model, where XLMTM dogs display clinical symptoms similar to those obser...
متن کاملValidity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy.
A simple clinical neurological test was developed to evaluate response to gene therapy in a preclinical canine model of X-linked myotubular myopathy (XLMTM). This devastating congenital myopathy is caused by mutation in the myotubularin (MTM1) gene. Clinical signs include muscle weakness, early respiratory failure, and ventilator dependence. A spontaneously occurring canine model has a similar ...
متن کاملGene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
Loss-of-function mutations in the myotubularin gene (MTM1) cause X-linked myotubular myopathy (XLMTM), a fatal, congenital pediatric disease that affects the entire skeletal musculature. Systemic administration of a single dose of a recombinant serotype 8 adeno-associated virus (AAV8) vector expressing murine myotubularin to Mtm1-deficient knockout mice at the onset or at late stages of the dis...
متن کاملThe role of microRNAs in X-Linked Myotubular Myopathy
X-linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder characterized by profound hypotonia and severe skeletal muscle weakness in the affected newborn males. The pathology is associated with mutations in the MTM1 gene leading to loss of function of the resulting encoded protein, myotubularin. Myotubularin is a phosphoinositol lipid phosphases known to be involved in endosom...
متن کاملEnzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
No effective treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle disease caused by deficiency of the lipid phosphatase, myotubularin. The Mtm1δ4 and Mtm1 p.R69C mice model severely and moderately symptomatic XLMTM, respectively, due to differences in the degree of myotubularin deficiency. Contractile function of intact extensor digitorum longus (ED...
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عنوان ژورنال:
- Annals of translational medicine
دوره 4 1 شماره
صفحات -
تاریخ انتشار 2015