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Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy
01 February 2012
Young-Eun Park, Hyang-Sook Kim, Chang-Hoon Lee, Tai-Seung Nam, Young-Chul Choi, Dae-Seong Kim
Abstract: Dysferlinopathy refers to autosomal recessive muscular dystrophies caused by mutations in dysferlin gene (DYSF). It includes two major distinct disorders, Miyoshi myopathy and limb-girdle mu...
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Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains
30 January 2012
Maaike van Putten, Darshan Kumar, Margriet Hulsker, Willem M.H. Hoogaars, Jaap J. Plomp, Annemarieke van Opstal, Maarten van Iterson, Peter Admiraal, Gert-Jan B. van Ommen, Peter A.C. ‘t Hoen, Annemieke Aartsma-Rus
Abstract: The genetic defect of mdx mice resembles that of Duchenne muscular dystrophy, although their functional performance and life expectancy is nearly normal. By contrast, mice lacking utrophin a...
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Cerebral and muscle MRI abnormalities in myotonic dystrophy
30 January 2012
Daniel T. Franc, Ryan L. Muetzel, Paul R. Robinson, Craig P. Rodriguez, Joline C. Dalton, Cameron E. Naughton, Bryon A. Mueller, Jeffrey R. Wozniak, Kelvin O. Lim, John W. Day
Abstract: Pathophysiological mechanisms underlying the clinically devastating CNS features of myotonic dystrophy (DM) remain more enigmatic and controversial than do the muscle abnormalities of this c...
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When tubules aggregate
27 January 2012
Hans H. Goebel
Within muscle fibres, tubules appear as microtubules, transverse tubules, and different components of the sarcotubular system, the latter consisting of longitudinal tubules and lateral or terminal sac...
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Cortical heterotopia in LGMD2I
24 January 2012
Dimitri Renard, Carla Fernandez, Celine Bouchet-Seraphin, Pierre Labauge
A 40-year-old man, with a history of one generalized non-febrile seizure at the age of 4years, presented with slowly progressive proximal muscle weakness in the four limbs since the age of 12years and...
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