The Paradox of Muscle Hypertrophy in Muscular Dystrophy

Kornegay, Joe N.; Childers, Martin K.; Bogan, Daniel J.; Bogan, Janet R.; Nghiem, Peter P.; Wang, Jiahui; Fan, Zheng; Howard, James F.; Schatzberg, Scott J.; Dow, Jennifer L.; Grange, Robert W.; Styner, Martin; Hoffman, Eric P.; Wagner, Kathryn R.

doi:10.1016/j.pmr.2011.11.014

Cited by 94 publications

(85 citation statements)

References 123 publications

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“…With regard to objective measurements, as reported previously [13], serial interpolation over the entire length of the muscle more accurately predicted effects than mid-muscle belly analysis. Consistent with our prior pathologic studies [35], GRMD dogs showed markedly progressive absolute muscle volume loss in six of the seven muscles studied, with the only exception being the CS, which undergoes paradoxical hypertrophy in CS [21] (Fig. 4A).…”

Section: Discussionsupporting

confidence: 89%

Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy

Fan

Wang

Ahn

et al. 2014

Neuromuscular Disorders

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Section: Discussionsupporting

confidence: 89%

Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy

Fan

Wang

Ahn

et al. 2014

Neuromuscular Disorders

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“…7 Because it was difficult to differentiate connective tissue or fat from tongue tissue in the ultrasound examination, we could not discriminate "tongue pseudohypertrophy" from increased connective tissue or fat in the tongue. However, an enlarged tongue will cause poor bolus formation.…”

Section: Discussionmentioning

confidence: 97%

Relationship between tongue thickness and tongue pressure in neuromuscular disorders

Umemoto

Furuya

Arahata

et al. 2016

Neurology & Clinical Neurosc

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Background: Few previous studies have objectively evaluated the relationship between tongue volume and tongue weakness in patients with neuromuscular disorders. Aim: The present study aimed to show the relationship between tongue thickness and tongue pressure in patients with neuromuscular disorders. Methods: A total of 21 Duchenne muscular dystrophy patients, 30 myotonic dystrophy type 1 patients and 33 amyotrophic lateral sclerosis patients were recruited for this study. Tongue thickness was measured using ultrasonography, and defined as the distance from the raphe of the mylohyoid muscle to the tongue dorsum. Maximum tongue pressure was also determined using an oral probe whose small balloon was compressed onto the palate with the tongue. Results: Tongue thickness was significantly higher in the Duchenne muscular dystrophy group than in the other groups. The maximum tongue pressure was lower in the myotonic dystrophy type 1 group than the DMD group. A significant correlation between tongue thickness and maximum tongue pressure was found in the amyotrophic lateral sclerosis group, but not in the other groups. Conclusion: Ultrasound is an effective tool to assess tongue thickness in patients with neuromuscular disorders. The present results suggested that tongue pressure, which was relevant to tongue thickness, especially in amyotrophic lateral sclerosis patients, was more useful to evaluate swallowing function than kinesiological analysis of tongue movement.

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“…Various animal models have accelerated the advances in understanding of the path physiology of muscular dystrophy and allowed the progress of some promising approaches to therapy [29,30,31,32]. However, these animal models have species-specific differences in their clinical courses and phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Porcine Zygote Injection with Cas9/sgRNA Results in DMD-Modified Pig with Muscle Dystrophy

Zhao

Qing

et al. 2016

IJMS

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Dystrophinopathy, including Duchenne muscle dystrophy (DMD) and Becker muscle dystrophy (BMD) is an incurable X-linked hereditary muscle dystrophy caused by a mutation in the DMD gene in coding dystrophin. Advances in further understanding DMD/BMD for therapy are expected. Studies on mdx mice and dogs with muscle dystrophy provide limited insight into DMD disease mechanisms and therapeutic testing because of the different pathological manifestations. Miniature pigs share similar physiology and anatomy with humans and are thus an excellent animal model of human disease. Here, we successfully achieved precise DMD targeting in Chinese Diannan miniature pigs by co-injecting zygotes with Cas9 mRNA and sgRNA targeting DMD. Two piglets were obtained after embryo transfer, one of piglets was identified as DMD-modified individual via traditional cloning, sequencing and T7EN1 cleavage assay. An examination of targeting rates in the DMD-modified piglet revealed that sgRNA:Cas9-mediated on-target mosaic mutations were 70% and 60% of dystrophin alleles in skeletal and smooth muscle, respectively. Meanwhile, no detectable off-target mutations were found, highlighting the high specificity of genetic modification using CRISPR/Cas9. The DMD-modified piglet exhibited degenerative and disordered phenotypes in skeletal and cardiac muscle, and declining thickness of smooth muscle in the stomach and intestine. In conclusion, we successfully generated myopathy animal model by modifying the DMD via CRISPR/Cas9 system in a miniature pig.

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The Paradox of Muscle Hypertrophy in Muscular Dystrophy

Cited by 94 publications

References 123 publications

Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy

Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy

Relationship between tongue thickness and tongue pressure in neuromuscular disorders

Porcine Zygote Injection with Cas9/sgRNA Results in DMD-Modified Pig with Muscle Dystrophy

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