Muscular Dystrophy Research Today is a free monthly online journal that collates and summarizes the latest research about Muscular Dystrophy, including details on duchenne muscular dystrophy, symptoms, treatment.

Systemic administration of PRO051 in Duchenne's muscular dystrophy.

Goemans NM, Tulinius M, van den Akker JT, Burm BE, Ekhart PF, Heuvelmans N, Holling T, Janson AA, Platenburg GJ, Sipkens JA, Sitsen JM, Aartsma-Rus A, van Ommen GJ, Buyse G, Darin N, Verschuuren JJ, Campion GV, de Kimpe SJ, van Deutekom JC

Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium.

Published 21 April 2011 in N Engl J Med, 364(16): 1513-22.
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Articles on Muscular Dystrophy published 21 April 2011:

Systemic administration of PRO051 in Duchenne's muscular dystrophy.   N Engl J Med, 364(16): 1513-22.

[Abstract] [Full-text]

Articles on Muscular Dystrophy published 10 March 2011:

A dystroglycan mutation associated with limb-girdle muscular dystrophy.   N Engl J Med, 364(10): 939-46.

Dystroglycan, which serves as a major extracellular matrix receptor in muscle and the central nervous system, requires extensive O-glycosylation to function. We identified a dystroglycan missense mutation (Thr192→Met) in a woman with limb-girdle muscular dystrophy and cognitive impairment. A mouse model harboring this mutation recapitulates the immunohistochemical and neuromuscular abnormalities observed in the patient. In vitro and in vivo studies showed that the mutation impairs the ... [Abstract] [Full-text]

A dystroglycan mutation associated with limb-girdle muscular dystrophy.   N Engl J Med, 364(10): 939-46.

Dystroglycan, which serves as a major extracellular matrix receptor in muscle and the central nervous system, requires extensive O-glycosylation to function. We identified a dystroglycan missense mutation (Thr192→Met) in a woman with limb-girdle muscular dystrophy and cognitive impairment. A mouse model harboring this mutation recapitulates the immunohistochemical and neuromuscular abnormalities observed in the patient. In vitro and in vivo studies showed that the mutation impairs the ... [Abstract] [Full-text]

Articles on Muscular Dystrophy published 21 February 2011:

Activation of AKT signaling promotes cell growth and survival in α7β1 integrin-mediated alleviation of muscular dystrophy.   Biochim Biophys Acta, 1812(4): 439-46.

Transgenic expression of the α7 integrin can ameliorate muscle pathology in a mouse model of Duchenne muscular dystrophy (mdx/utr(-/-)) and thus can compensate for the loss of dystrophin in diseased mice. In spite of the beneficial effects of the α7 integrin in protecting mice from dystrophy, identification of molecular signaling events responsible for these changes remains to be established. The purpose of this study was to determine a role for signaling in the amelioration of muscular ... [Abstract] [Full-text]

Articles on Muscular Dystrophy published 21 January 2011:

Genotyping mdx, mdx3cv, and mdx4cv mice by primer competition polymerase chain reaction.   Muscle Nerve, 43(2): 283-6.

mdx, mdx3cv, and mdx4cv mice are among the most commonly used models for the study of Duchenne muscular dystrophy. Their disease is caused by point mutations in the dystrophin gene. Despite widespread use of these models, genotyping has not always been straightforward. Current methods require multiple polymerase chain reactions (PCRs), post-PCR manipulations, and/or special equipment/reagents. Herein we report a simple, robust PCR genotyping method based on primer competition. This approach ... [Abstract] [Full-text]

Articles on Muscular Dystrophy published 18 January 2011:

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.   Neurology, 76(3): 227-35.

[Abstract] [Full-text]

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.   Neurology, 76(3): 219-26.

[Abstract] [Full-text]

Articles on Muscular Dystrophy published 13 January 2011:

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.   Hum Genet, 129(2): 149-59.

Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. The disease is characterized by early onset joint contractures during childhood associated with humero-peroneal muscular wasting and weakness, and by the development of a cardiac disease in adulthood. Important intra-familial variability characterized by a wide range of age at onset of myopathic symptoms (AOMS) has been recurrently reported, suggesting the contribution of a modifier ... [Abstract] [Full-text]

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