نتایج جستجو برای: muscular dystrophies

تعداد نتایج: 45375  

2015
Bailey Nichols Shin’ichi Takeda Toshifumi Yokota Stephen D. Meriney

Dystrophin-glycoprotein complex (DGC) is an important structural unit in skeletal muscle that connects the cytoskeleton (f-actin) of a muscle fiber to the extracellular matrix (ECM). Several muscular dystrophies, such as Duchenne muscular dystrophy, Becker muscular dystrophy, congenital muscular dystrophies (dystroglycanopathies), and limb-girdle muscular dystrophies (sarcoglycanopathies), are ...

Journal: :Journal of Clinical Investigation 2020

Journal: :Annals of the Rheumatic Diseases 1995

Journal: :Brain : a journal of neurology 2015
Macarena Cabrera-Serrano Roula Ghaoui Gianina Ravenscroft Russell D Johnsen Mark R Davis Alastair Corbett Stephen Reddel Carolyn M Sue Christina Liang Leigh B Waddell Simranpreet Kaur Monkol Lek Kathryn N North Daniel G MacArthur Phillipa J Lamont Nigel F Clarke Nigel G Laing

Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with congenital muscle weakness, eye and brain structural abnormalities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation. Most frequently the disease onset is congenital or during childhood. The exception is FKRP mutations, in...

Journal: :Acta neurologica Taiwanica 2004
Yaw-Don Hsu

Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. It characterized by progressive muscle wasting and weakness of variable distribution and severity. There are several subgroups including Duchenne/Becker, fascioscapulohumeral, limb-girdle, oculopharngeal, and congenital muscular dystrophy. Diagnosis is dependent to the characteristic clinical features i...

Journal: :Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2015
Jordi Díaz-Manera Jaume Llauger Eduard Gallardo Isabel Illa

Muscle MRI has become a very useful tool in the diagnosis and follow-up of patients with muscle dystrophies. Muscle MRI provides us about many aspects of the structure and function of skeletal muscles, such as the presence of oedema or fatty infiltration. In the last years many reports have described the particular muscles that are involved in these muscle disease. This knowledge can facilitate...

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