Results 111 to 120 of about 713 (148)
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Calpainopathy presenting as foot drop in a 41 year old
Neuromuscular Disorders, 2010Mutations in the gene encoding muscle-specific calpain 3 protease cause limb girdle muscular dystrophy type 2A. Calpainopathy is characterised by progressive symmetrical atrophy of pelvic, scapular and trunk muscles with an elevated creatine kinase. Most patients develop symptoms in childhood and lose the ability to walk by the age of 40 years.
Rita Barresi, S R Hammans, M Sampson
exaly +4 more sources
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)
Neurological Research, 2010Autosomal recessive limb girdle muscular dystrophies (LGMD type 2) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement and wasting of limb girdle muscles. In order to describe the peculiar clinical features of LGMD2A (calpainopathy) and LGMD2B (dysferlinopathy), the most frequent forms of LGMD in ...
Corrado Angelini, Marina Fanin
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Molecular genetic study of Calpainopathy in Iran
Gene, 2018 Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies (LGMDs) caused by mutations in the CAPN3 gene. CAPN3 is a Ca2+-dependent cystein protease consisting of 821 amino acids. LGMD is a highly heterogeneous disorder and mutation identification of this disease by Sanger sequencing of all genes is expensive and time consuming ...
Marzieh Mojbafan +4 more
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Oxidative Stress, NF-κB and the Ubiquitin Proteasomal Pathway in the Pathology of Calpainopathy
Neurochemical Research, 2013The neuromuscular disorder, calpainopathy (LGMD 2A), is a major muscular dystrophy classified under limb girdle muscular dystrophies. Genetic mutations of the enzyme calpain 3 cause LGMD 2A. Calpainopathy is phenotypically observed as progressive muscle wasting and weakness.
Mathew Alexander, Anna Oommen
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Neuromuscular Disorders, 2017 The aim was to investigate if daily low-dose treatment with recombinant human growth hormone (somatropine) can stabilize or improve muscle strength and walking capability in a patient with dominantly inherited calpainopathy.
John Vissing +2 more
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Calpainopathy and eosinophilic myositis
Annals of Neurology, 2006 Robert H. Brown, Anthony Amato
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Molecular and genetic features of calpainopathy
Genes & Cells, 2022Calpainopathy is the most common form of limb-girdle muscular dystrophy, prevalence in the population is approximately 1 in 15,00042,700 individuals. In the Russian Federation, there is an insufficient number of studies, which researched prevalence of calpainopathy among patients with limb-girdle muscular dystrophy, but according to available data ...
L. A. Mkrtchyan +4 more
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Neuromuscular Disorders, 2009 PubMedID: 19285864An 11-year-old girl with a calpain-3 gene (CAPN-3) mutation and eosinophilic myositis on muscle biopsy had high serum CK levels and eosinophil counts which showed spontaneous fluctuations. After commencement of immunosuppressive therapy
Tevfik Sabuncu +2 more
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Left ventricular deformation abnormalities in a patient with calpainopathy—a case from the three-dimensional speckletracking echocardiographic MAGYAR-Path Study [PDF]
Quantitative Imaging in Medicine and Surgery, 2017 Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophies. The disease is caused by mutations in the CAPN3 gene encoding calpain, a protein involved in muscle membrane
László Vécsei
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