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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
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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Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies.
Physical Therapy, 2022Meredith K James +2 more
exaly
REVERSIBLE LIMB-GIRDLE MUSCULAR DYSTROPHY
The Lancet, 1988M.J. Steiger +4 more
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Limb–Girdle Muscular Dystrophies Classification and Therapies
Journal of Clinical Medicine, 2023Jacques P. Tremblay, Camille Bouchard
exaly
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Brain, 2013Josep Gámez +2 more
exaly
The 10 autosomal recessive limb-girdle muscular dystrophies
Neuromuscular Disorders, 2003Flavia de Paula +2 more
exaly

