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A foundation for limb-girdle muscular dystrophy
Nature Medicine, 1995Recent work suggests that the molecular basis for one form of limb-girdle muscular dystrophy is neither a single gene nor many genes: Enter the digenic model.
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Limb-Girdle Muscular Dystrophy Type 2I
2014Limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi (MM) are caused by mutations in the DYSF gene encoding the protein dysferlin (Table 10.1). Although the clinical features of LGMD2B and MM are different, both phenotypes can be detected among patients belonging to the same family.
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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
2017Limb–girdle muscular dystrophies (LGMDs) are a large group of autosomal muscular dystrophies, transmitted as dominant (LGMD 1) and recessive (LGMD 2). Presently at least 8 dominant and 21 recessive forms have been described. All share the broad denominator of limb–girdle weakness; some specific clinical features are known to correlate with the ...
Satish V. Khadilkar +2 more
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Limb-Girdle Muscular Dystrophies
2014Molecular and genetic breakthroughs continue to explode our knowledge of the limb-girdle muscular dystrophies. Despite a common, basic phenotype, the more than 25 genes underlying these genetic muscle diseases lead to substantial heterogeneity in pathogenesis and clinical course.
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[Limb girdle muscular dystrophies].
Der Nervenarzt, 2005Limb girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of primary myopathies involving progressive weakness and wasting of the muscles in the hip and shoulder girdles, with distal spread to the bulbar or respiratory musculature in rare cases.
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REVERSIBLE LIMB-GIRDLE MUSCULAR DYSTROPHY
The Lancet, 1988M.J. Steiger +4 more
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