Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
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
Restless arm syndrome: a rare disease?
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-244890
Abstract: Restless legs syndrome (RLS) is a common neurological disorder characterised by an irresistible urge to move the lower limbs, often accompanied by unpleasant sensations in the legs, typically occurring in the evening and at night… read more here.
Keywords: syndrome rare; restless; rare disease; arm syndrome ... See more keywords