Articles with "duplication mutations" as a keyword



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Flail arm syndrome due to duplication mutations in the SMN1 gene: A case report

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Published in 2023 at "Medicine"

DOI: 10.1097/md.0000000000033565

Abstract: Rationale: Flail arm syndrome (FAS) only involves the upper limbs early stage and manifests as proximal weakness and atrophy of both upper limbs and decreased tendon reflexes. As a benign variant type of amyotrophic lateral… read more here.

Keywords: arm syndrome; duplication mutations; smn1 gene; gene ... See more keywords