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Expanding the Phenotypic Spectrum of <i>ECEL1</i>-Associated Distal Arthrogryposis

Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in <i>ECEL1.</i> We describe two consanguineous families (three patients) with novel <i>ECEL1</i> gene mutations detected by next-generation sequencing (NGS). A 12-year-old boy (patient 1) presented wit...

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Autori principali: Akshata Huddar, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Gopikrishnan Unnikrishnan, Saraswati Nashi, Seena Vengalil, Priyanka Priyadarshini, Karthik Kulanthaivelu, Gautham Arunachal, Hanns Lochmüller, Atchayaram Nalini
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI AG 2021-10-01
Serie:Children
Soggetti:
distal arthrogryposis
AMC
<i>ECEL1</i>
contractures
muscle MRI
Accesso online:https://www.mdpi.com/2227-9067/8/10/909
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