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Delineation of the genotype and phenotype of children presenting with dystrophies, excluding dystrophinophathies, in the Western Cape of South Africa. (2019-2020)
Background Muscular dystrophies (MD) and myopathies are a distinct group of clinically and genetically heterogeneous inherited muscle diseases. They cause muscle weakness often with cardiac, pulmonary, and musculoskeletal dysfunction, leading to reduced longevity. MDs and myopathies present across a...
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| Format: | Thesis |
| Language: | English |
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Department of Paediatrics and Child Health
2022
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