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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 ...
openaire +1 more source
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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Muscle MRI in sarcoglycanopathies
Neuromuscular Disorders, 2015G. Tasca +14 more
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Acute ischemic stroke in gamma-sarcoglycanopathy
La Presse Médicale, 2013Abdallah, Fayssoil +5 more
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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
European Journal of Neurology, 2021Raquel Guimarães-Costa +2 more
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