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Cardiac diseases in sarcoglycanopathies
International Journal of Cardiology, 2010Abstract Sarcoglycanopathies (SGs) are autosomal recessive limb-girdle muscular dystrophies (LGMD). These dystrophies are caused by mutations in any of the four sarcoglycan genes: α (LGMD 2D), β (LGMD 2E), γ (LGMD 2C) and δ (LGMD 2F). We discuss heart involvement in these diseases.
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Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies
Clinical Neuropathology, 2021Since the immune system plays a role in the pathogenesis of several muscular dystrophies, we aim to characterize several muscular inflammatory features in α- (LGMD R3) and γ-sarcoglycanopathies (LGMD R5).We explored the expression of major histocompatibility complex class I molecules (MHCI), and we analyzed the composition of the immune infiltrates in ...
Panicucci C. +11 more
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Evaluation of cardiac and respiratory involvement in sarcoglycanopathies
Neuromuscular Disorders, 2001Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called alpha-, beta-, gamma-, delta-and epsilon-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete ...
POLITANO, Luisa +13 more
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[Heart involvement in sarcoglycanopathies].
Revue neurologique, 2013Sarcoglycanopathies (SG) are autosomic recessive muscular dystrophies, secondary to mutations of the sarcoglycan complex. Clinical pictures include muscle weakness affecting mainly the proximal limb girdle musculature. We review heart involvement in this group of disease.
A, Fayssoil +3 more
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Rinsho shinkeigaku = Clinical neurology, 2000
Sarcoglycanopathy is a group of four autosomal recessive muscular dystrophies whose symptoms are similar to Duchenne muscular dystrophy (DMD). These dystrophies are caused by mutations on anyone of the genes encoding four subunits of sarcoglycan complex which are transmembranous and dystrophin associated proteins.
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Sarcoglycanopathy is a group of four autosomal recessive muscular dystrophies whose symptoms are similar to Duchenne muscular dystrophy (DMD). These dystrophies are caused by mutations on anyone of the genes encoding four subunits of sarcoglycan complex which are transmembranous and dystrophin associated proteins.
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Revista de neurologia, 1999
Identification of several clinical pictures in relation to a deficit of various protein components of the sarcoglycan complex, has allowed a new classification to be established for muscular dystrophies, correlating the protein alpha, beta, gamma, sigma deficit with a type of girdle dystrophy ('Limb-Girdle Muscular Dystrophy', LGMD) and the genomic ...
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Identification of several clinical pictures in relation to a deficit of various protein components of the sarcoglycan complex, has allowed a new classification to be established for muscular dystrophies, correlating the protein alpha, beta, gamma, sigma deficit with a type of girdle dystrophy ('Limb-Girdle Muscular Dystrophy', LGMD) and the genomic ...
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Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?
Neuromuscular Disorders, 2008Muscle immunoanalysis of the sarcoglycan complex is an important part of the diagnostic evaluation of muscle biopsies in patients with autosomal recessive limb-girdle muscular dystrophy. Reduced or absent sarcolemmal expression of one or all of the four sarcoglycans (alpha-, beta-, gamma-, delta-sarcoglycan) can be found in patients with limb-girdle ...
Klinge L +7 more
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Sarcoglycanopathies: a report of 25 cases.
Neurology India, 2002Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was more pronounced in adductor and flexor groups of muscles of the limbs, hip adductor muscles being the weakest. The selective and differential weakness between weak hip adductors and stronger hip abductors resulted in the hip ...
S. V. Khadilkar +2 more
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Muscle MRI in sarcoglycanopathies
Neuromuscular Disorders, 2015G. Tasca +14 more
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