CLINICAL UTILITY OF RNA SEQUENCING TO RESOLVE UNUSUAL GNE MYOPATHY WITH A NOVEL PROMOTER DELETION

INTRODUCTION: UDP N-acetylglucosamine2-epimerase/N-acetylmannosamine-kinase (GNE) gene mutations can cause mostly autosomal-recessive myopathy with juvenile-onset known as hereditary inclusion-body myopathy (HIBM). METHODS: We describe a family of a patient showing an unusual HIBM with both vacuolar...

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Publicado no:Muscle Nerve
Main Authors: CHAKRAVORTY, SAMYA, BERGER, KIERA, ARAFAT, DALIA, NALLAMILLI, BABI RAMESH REDDY, SUBRAMANIAN, HARI PRASANNA, JOSEPH, SOUMYA, ANDERSON, MARY E., CAMPBELL, KEVIN P., GLASS, JONATHAN, GIBSON, GREG, HEGDE, MADHURI
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7688010/
https://ncbi.nlm.nih.gov/pubmed/30990900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.26486
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