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Other limb-girdle muscular dystrophies
2011The secondary α-dystroglycanopathies usually present in infancy as congenital muscular dystrophies but may manifest later in childhood or adult life (limb-girdle muscular dystrophy (LGMD) 2I, LGMD2K, LGMD2M, LGMD2N, and LGMD2O). Patients with telethoninopathy (LGMD2B) may present with mainly proximal or distal lower extremity weakness, and notably the ...
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Limb-Girdle Muscular Dystrophy Type 1B
2014Limb-girdle muscular dystrophy type 1B is characterized by progressive limb-girdle weakness (affecting the pelvic before shoulder girdle), mild joint contractures, atrioventricular cardiac conduction disturbances, and dilated cardiomyopathy. The disease is due to mutations in the LMNA gene, encoding lamins A/C.
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Limb Girdle Muscular Dystrophies
2013Autosomal dominant and recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic diseases with a wide spectrum of clinical involvement and severity. In contrast to the more common X-linked dystrophinopathies, onset is often later during late childhood or at adult age.
Maggie C. Walter, Dirk Fischer
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REVERSIBLE LIMB-GIRDLE MUSCULAR DYSTROPHY
The Lancet, 1988M.J. Steiger +4 more
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Therapeutic approaches for Duchenne muscular dystrophy
Nature Reviews Drug Discovery, 2023Thomas C Roberts, Kay E Davies
exaly