HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference25 articles.
1. Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS;Kim;Nature,2013
2. Multisystem proteinopathy: where myopathy and motor neuron disease converge;Korb;Muscle Nerve,2021
3. Multisystem proteinopathy: intersecting genetics in muscle, bone, and brain degeneration;Taylor;Neurology,2015
4. Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis;Calini;Neurobiol Aging,2013
5. hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes;Le Ber;Neurobiol Aging,2014
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