Dystrophin: A clinical perspective

Wessel, Henry B.

doi:10.1016/0887-8994(90)90071-8

Cited by 24 publications

(5 citation statements)

References 72 publications

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“…DMD in humans is an X-linked recessive disorder affecting 1 in 3500 male births that is fatal by the second decade of life. 10 Dystrophin deficiency has been reported as an X-linked recessive disorder in cats. 1 This condition has also been called feline hypertrophic muscular dystrophy 3 and is comparable to DMD.…”

Section: Discussionmentioning

confidence: 99%

Postanesthetic Death in a Cat With Myopathy

et al. 2014

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There are few reports of naturally occurring muscular dystrophy in domestic animals. Herein, we describe a case of muscular dystrophy in a 4-year-old neutered male American domestic shorthair cat that died unexpectedly following anesthesia for an elective surgical procedure. Macroscopic muscular hypertrophy and histologic evidence of myofiber size variation, mineralization, myofiber degeneration, and necrosis were compatible with a diagnosis of muscular dystrophy. Extensive endomysial fibrosis was noted histologically in the diaphragm. A complete absence of dystrophin protein in Western blot confirmed the diagnosis of Duchenne muscular dystrophy. Immunofluorescence microscopy revealed reduced levels of dystrophin-associated proteins and an upregulation of utrophin at the sarcolemma. Anesthetic deaths can occur in dystrophin-deficient cats, and therefore muscular dystrophy and the associated cardiomyopathy should be considered in the differential diagnoses for perianesthetic death in cats.

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Section: Discussionmentioning

confidence: 99%

Postanesthetic Death in a Cat With Myopathy

et al. 2014

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“…Duchenne muscular dystrophy (DMD) is an X‐linked recessive disorder with an incidence of 1 in 3500 male births. Of these, approximately one third are due to de novo mutations in the 2.4‐megabase dystrophin gene 53. Repetitive rounds of muscle fiber necrosis, for which the recurrent phases of muscle regeneration cannot compensate, characterize DMD,6, 14, 46 The net result is progressive loss of limb and trunk skeletal muscle fibers, leading to premature death.…”

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confidence: 99%

Dynamic restoration of dystrophin to dystrophin-deficient myotubes

Kong¹,

Anderson²

2001

Muscle Nerve

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Dystrophin domains are observed in myoblast transplantation experiments and in muscle fibers after somatic reversion in human Duchenne and mdx mouse muscular dystrophy. However, the formation and evolution of dystrophin‐positive domains are not well established. Using a muscle satellite cell coculture system, we examined the dynamic restoration of dystrophin expression in dystrophin‐deficient myotubes. The dystrophin‐positive domains around source nuclei were clearly identified in hybrid myotubes. The occurrence of dystrophin domains was higher in myotubes differentiated from cocultures with a low concentration of normal wild‐type satellite cells in relation to dystrophin‐deficient satellite cells. At higher seeding ratios, the domain feature of dystrophin expression was more transitory and decreased as myotubes differentiated over time in culture. The average domain size initially increased with the addition of new nuclei by fusion early after differentiation of cocultures. However, separating dystrophin‐positive domains according to their number of dystrophin‐expressing contributory nuclei showed that diffusion of dystrophin contributed to domain elongation, even in early myotubes and later without fusion of additional nuclei. Diffusion occurred for all domains of one to six wild‐type nuclei, and the diffusion rate was higher in domains with larger numbers of nuclei. This dynamic domain feature of dystrophin expression was also related to restoring the organization of dystrophin‐associated proteins and acetylcholine receptors to hybrid myotubes. Factors regulating domain formation and diffusion therefore are important considerations in the design of strategies for both myoblast transplantation and gene therapy of Duchenne muscular dystrophy. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 77–88, 2001

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“…427 kDa) cytoskeletal protein most abundant in skeletal muscle [1]. It affects 1 in 3500 males leading to progressive muscular weakness and death usually in the third decade [2].…”

Section: Introductionmentioning

confidence: 99%

Retroviral‐mediated transfer of a dystrophin minigene into mdx mouse myoblasts in vitro

et al. 1992

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We have demonstrated expression of a 6.3 kb Becker muscular dystrophy (BMD) haman dystrophin cDNA following retroviral-mediated transduction of cultured myoblasts from the dystrophin-deficient rod.x" mouse. The truncated dystrophin protein was localiscd to the sarcolcmma of differentiated myotube5 by antibodies against the C.terminus el'the molecule, and produced an identical immunostaining pattern to that observed in control myotubes expressing normal endogenous dystrophin. These results indicate that retroviral-mediated gene transl'er may be useful for exl~rimental in rive studies on the complementation of dystrophin gone mutations,

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Dystrophin: A clinical perspective

Cited by 24 publications

References 72 publications

Postanesthetic Death in a Cat With Myopathy

Postanesthetic Death in a Cat With Myopathy

Dynamic restoration of dystrophin to dystrophin-deficient myotubes

Retroviral‐mediated transfer of a dystrophin minigene into mdx mouse myoblasts in vitro

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