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1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France [PDF]
Neuromuscular Disorders, 2017 Review on current states on clinical trial readiness for ...
John Vissing +2 more
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Revue Neurologique, 2012
Sarcoglycanopathies (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.
Djillali Annane +2 more
exaly +2 more sources
Sarcoglycanopathies (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.
Djillali Annane +2 more
exaly +2 more sources
The Indian Journal of Pediatrics, 2005
Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance; which belong to the group of limb girdle muscular dystrophies. The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from the Indian subcontinent are scarce.
Seema, Kapoor +3 more
openaire +2 more sources
Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance; which belong to the group of limb girdle muscular dystrophies. The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from the Indian subcontinent are scarce.
Seema, Kapoor +3 more
openaire +2 more sources
The clinical spectrum of sarcoglycanopathies
Neurology, 1999A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical alpha-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with alpha-, beta-, or gamma-sarcoglycan gene mutations.
Angelini C +5 more
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Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy
Acta Neurologica Belgica, 2014Sarcoglycanopathies are autosomic recessive muscular dystrophies, secondary to mutations of the sarcoglycan complex. Heart can be involved in sarcoglycanopathies. We sought to analyse left ventricular function in patients with alpha-sarcoglycanopathy and gamma-sarcoglycanopathy.
Abdallah, Fayssoil +3 more
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American Journal of Cardiology, 2018 International audienceCardiac and respiratory function may be impaired in sarcoglycanopathies, a subgroup of muscular dystrophies due to sarcoglycan proteins (α, β, γ, and δ) genes mutations.
Rabah Ben Yaou +2 more
exaly +2 more sources
2011
The so-called sarcoglycanopathies form a subgroup of four genetically closely related autosomal recessive limb-girdle muscular dystrophies (LGMD2C-F) caused by mutations of the α-, β-, γ-, and δ-sarcoglycan genes. All four sarcoglycans are glycosylated transmembrane proteins and form a tetrameric complex that is part of dystrophin-associated proteins ...
Kirschner, Janbernd, Lochmüller, Hanns
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The so-called sarcoglycanopathies form a subgroup of four genetically closely related autosomal recessive limb-girdle muscular dystrophies (LGMD2C-F) caused by mutations of the α-, β-, γ-, and δ-sarcoglycan genes. All four sarcoglycans are glycosylated transmembrane proteins and form a tetrameric complex that is part of dystrophin-associated proteins ...
Kirschner, Janbernd, Lochmüller, Hanns
openaire +3 more sources
Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction?
Muscle and Nerve, 1999 Dilated cardiomyopathy is a feature of Duchenne and Decker muscular dystrophies and occasionally of sarcoglycanopathies. Its pathogenesis is unknown. Patients with myotonic dystrophy have an impairment of coronary smooth muscle and this could contribute ...
Paolo CAMICI +2 more
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Episodic myoglobinuria in a primary gamma-sarcoglycanopathy
Neuromuscular Disorders, 2010Episodic myoglobinuria is a well-recognized complication of metabolic myopathies, and may occur in Duchenne and Becker dystrophies, but has only rarely been associated with limb-girdle muscular dystrophy. We describe an unusual presentation, with rhabdomyolysis, of limb-girdle muscular dystrophy (LGMD).
Loren, Pena +2 more
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Emerging therapeutic strategies for sarcoglycanopathy
Expert Opinion on Orphan Drugs, 2017ABSTRACTIntroduction: Sarcoglycanopathy is the name shared by four rare autosomal recessive muscular dystrophies (LGMD2 C-F) that are usually characterized by early onset and rapid progression and an accompanying loss of independent walking since adolescence. Respiratory problems are frequent, and dilated cardiomyopathy may occur, although milder forms
Marcello Carotti +2 more
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