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GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene...

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Библиографические подробности
Опубликовано в: :Neurotherapeutics
Главные авторы: Carrillo, Nuria, Malicdan, May C., Huizing, Marjan
Формат: Artigo
Язык:Inglês
Опубликовано: Springer International Publishing 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6277305/
https://ncbi.nlm.nih.gov/pubmed/30338442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13311-018-0671-y
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