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Muscle and Nerve, 2014 The aim of this study is to describe the frequency, nature, severity, and progression of cardiac abnormalities in a cohort of Dutch sarcoglycanopathy patients.
Marianne de Visser
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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
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Sarcoglycanopathies: an update
Neuromuscular Disorders, 2021Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular dystrophies (LGMDs), constituting about 10-25% of LGMDs. The clinical phenotype is variable, but onset is usually in the first decade of life. Patients present muscle hypertrophy, elevated CK, variable muscle weaknesses, and progressive loss of ambulation.
Mariz, Vainzof +3 more
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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.
Sandeep Aggarwal, Medha Tatke
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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.
Sandeep Aggarwal, Medha Tatke
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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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Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion
Neuromuscular Disorders, 2000 We report two siblings with a relatively severe limb-girdle muscular dystrophy. The elder sister presented at 8 years of age with inability to climb and abnormal gait. At 12 years she was barely ambulant. Her sister followed a similar course.
Elizabeth M. McNally +2 more
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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
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).
Katherine Kim, Joel Charrow
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Acute ischemic stroke in gamma-sarcoglycanopathy
Presse Medicale, 2013Djillali Annane +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.
A. Fayssoil +3 more
openaire +1 more source
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.
A. Fayssoil +3 more
openaire +1 more source