A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report
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Mutations in DYNC1H1 have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. He... ...
