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Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
Martinez-Thompson JM, Niu Z, Tracy JA, Moore SA, Swenson A, Wieben ED, Milone M. Martinez-Thompson JM, et al. Among authors: milone m. Muscle Nerve. 2018 Apr;57(4):679-683. doi: 10.1002/mus.25970. Epub 2017 Sep 30. Muscle Nerve. 2018. PMID: 28881388 Free PMC article.
GYG1: A distal myopathy with polyglucosan bodies.
Nicolau S, Tracy JA, Pisapia DJ, Tanji K, Milone M. Nicolau S, et al. Among authors: milone m. JIMD Rep. 2020 May 13;55(1):88-90. doi: 10.1002/jmd2.12129. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905144 Free PMC article.
Transthyretin amyloidosis: Putting myopathy on the map.
Pinto MV, Milone M, Mauermann ML, Dyck PJB, Alhammad R, McPhail ED, Grogan M, Liewluck T. Pinto MV, et al. Among authors: milone m. Muscle Nerve. 2020 Jan;61(1):95-100. doi: 10.1002/mus.26723. Epub 2019 Oct 21. Muscle Nerve. 2020. PMID: 31587306
634 results