Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy
Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy
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New York: Elsevier Inc
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Language
English
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Publisher
New York: Elsevier Inc
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Contents
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset disorder characterized by ptosis, dysphagia, and weakness of proximal limbs. OPMD is caused by the expansion of polyalanine in poly(A)-binding protein, nuclear 1 (PABPN1). Although mitochondrial abnormality has been proposed as the possible etiology, the molecular pathogenesis is still poorl...
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Full title
Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy
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TN_cdi_proquest_journals_2309514878
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2309514878
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ISSN
0023-6837
E-ISSN
1530-0307
DOI
10.1038/s41374-019-0243-8
