Results 131 to 140 of about 841 (164)
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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, M Fanin
exaly +3 more sources
Muscle and Nerve, 2011
AbstractIntroduction: Limb‐girdle muscular dystrophy type 2A (LGMD2A) is caused by a deficiency of calpain‐3/p94. Although the symptoms in most LGMD2A patients are generally homogeneous, some variation in the severity and progression of the disease has been reported.
Amets Saenz +2 more
exaly +3 more sources
AbstractIntroduction: Limb‐girdle muscular dystrophy type 2A (LGMD2A) is caused by a deficiency of calpain‐3/p94. Although the symptoms in most LGMD2A patients are generally homogeneous, some variation in the severity and progression of the disease has been reported.
Amets Saenz +2 more
exaly +3 more sources
Neuromuscular Disorders, 2004
Calpain3 (CAPN3, p94) is a muscle-specific nonlysosomal cysteine proteinase. Loss of proteolytic function or change of other properties of this enzyme (such as stability or ability to interact with other muscular proteins) is manifested as limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy).
Markéta Hermanová +2 more
exaly +3 more sources
Calpain3 (CAPN3, p94) is a muscle-specific nonlysosomal cysteine proteinase. Loss of proteolytic function or change of other properties of this enzyme (such as stability or ability to interact with other muscular proteins) is manifested as limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy).
Markéta Hermanová +2 more
exaly +3 more sources
Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance
Muscle and Nerve, 2015ABSTRACTIntroductionCardiac dysfunction occurs in several forms of limb girdle muscular dystrophy (LGMD). The aim of this study was to investigate cardiac involvement in calpainopathy (LGMD2A).MethodsCardiovascular evaluation was performed in 10 patients with genetically verified LGMD2A by echocardiography, 3 Tesla ‐ cardiovascular magnetic resonance ...
Jochen Schaefer +2 more
exaly +3 more sources
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A)
Journal of the Neurological Sciences, 1997Antibodies that recognise the muscle-specific calpain 3 (CANP3) were used in a 'blind' study to label blots of skeletal muscle from 12 control subjects and from 12 patients with various muscle diseases. Calpain 3 was clearly detected in all control muscle samples analysed, even though some of the muscle had been at room temperature for over an hour ...
Melissa J Spencer +2 more
exaly +3 more sources
Neuromuscular Disorders, 2007
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the muscle-specific proteolytic enzyme calpain-3. About 356 unique allelic variants of CAPN3 have been identified to date.
Markéta Hermanová +2 more
exaly +3 more sources
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the muscle-specific proteolytic enzyme calpain-3. About 356 unique allelic variants of CAPN3 have been identified to date.
Markéta Hermanová +2 more
exaly +3 more sources
Neurogenetics, 2007
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene. The clinical diagnoses of these cases in Bulgaria are very complicated, no protein analysis on muscular biopsy is available in our country, and genetic tests are the only possibility to clarify the diagnoses in clinically ambiguous cases.
Albena Todorova +2 more
exaly +3 more sources
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene. The clinical diagnoses of these cases in Bulgaria are very complicated, no protein analysis on muscular biopsy is available in our country, and genetic tests are the only possibility to clarify the diagnoses in clinically ambiguous cases.
Albena Todorova +2 more
exaly +3 more sources
Natural history of LGMD2A for delineating outcome measures in clinical trials
Annals of Clinical and Translational Neurology, 2016 International audienceLimb-girdle muscular dystophy 2A (LGMD2A, OMIM) is a slowly progressive myopathy caused by the deficiency in calpain 3, a calcium-dependent cysteine protease of the skeletal ...
Isabelle Richard +2 more
exaly +2 more sources
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients
Muscle & Nerve, 2005AbstractLimb‐girdle muscular dystrophy type 2A (LGMD2A) is an autosomal‐recessive disorder characterized by selective atrophy and progressive weakness of proximal girdle muscles. LGMD2A, the most prevalent form of LGMD, is caused by mutations in the CAPN3 gene that encodes the skeletal muscle–specific member of the calpain family, calpain‐3 (p94).
Markéta, Hermanová +11 more
openaire +2 more sources
Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A
Neuromuscular Disorders, 2009Immunoblot is currently the preferred laboratory test to assist the diagnosis of limb-girdle muscular dystrophy (LGMD) 2A (calpainopathy). To assess whether immunohistochemistry may offer a reliable alternative screening we used two antibodies, Calp3-2C4 (exon 1) and Calp3-12A2 (exon 8), to label blots and sections of skeletal muscle from controls and ...
Charlton R +6 more
openaire +3 more sources