SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Robert C Bucelli, Khalid Arhzaouy, Alan Pestronk, Sara K Pittman, Luisa Rojas, Carolyn M Sue, Anni Evilä, Peter Hackman, Bjarne Udd, Matthew Harms, Conrad C Weihl

Research output: Contribution to journalArticleScientificpeer-review

49 Citations (Scopus)
Original languageEnglish
Pages (from-to)665-674
Issue number8
Publication statusPublished - 2015
Publication typeA1 Journal article-refereed

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