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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neurotherapeutics |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Springer International Publishing
2018
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| Θέματα: | |
| Διαθέσιμο Online: | 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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