Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
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DOI: 10.1002/acn3.51682
Abstract: Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity… read more here.
Keywords: review hnrnpa1; clinical heterogeneity; arm syndrome; hnrnpa1 related ... See more keywords
Flail arm syndrome due to duplication mutations in the SMN1 gene: A case report
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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