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9. [Autosomal dominant distal myopathy with rimmed vacuoles and cytoplasmic inclusions: report of a family]. Uesaka Y; Nakamichi K; Kojima S; Ida M; Takagi A Rinsho Shinkeigaku; 1997 Jan; 37(1):1-6. PubMed ID: 9146065 [TBL] [Abstract][Full Text] [Related]
10. Distal myopathy with rimmed vacuoles and cerebellar atrophy. Merkli H; Pál E; Gáti I; Czopf J Pathol Oncol Res; 2006; 12(2):115-7. PubMed ID: 16799715 [TBL] [Abstract][Full Text] [Related]
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12. Spectrum of congenital myopathies: a single centre experience. Uppin MS; Meena AK; Sundaram C Neurol India; 2013; 61(3):254-9. PubMed ID: 23860144 [TBL] [Abstract][Full Text] [Related]
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15. Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. Vattemi G; Neri M; Piffer S; Vicart P; Gualandi F; Marini M; Guglielmi V; Filosto M; Tonin P; Ferlini A; Tomelleri G Acta Myol; 2011 Oct; 30(2):121-6. PubMed ID: 22106715 [TBL] [Abstract][Full Text] [Related]
16. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. Avila-Smirnow D; Gueneau L; Batonnet-Pichon S; Delort F; Bécane HM; Claeys K; Beuvin M; Goudeau B; Jais JP; Nelson I; Richard P; Ben Yaou R; Romero NB; Wahbi K; Mathis S; Voit T; Furst D; van der Ven P; Gil R; Vicart P; Fardeau M; Bonne G; Behin A Rev Neurol (Paris); 2016 Oct; 172(10):594-606. PubMed ID: 27633507 [TBL] [Abstract][Full Text] [Related]
17. [Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene]. Pou Serradell A; Lloreta Trull J; Corominas Torres J; Guicheney P Neurologia; 2001 May; 16(5):195-203. PubMed ID: 11412718 [TBL] [Abstract][Full Text] [Related]
18. A novel in-frame deletion in MYOT causes an early adult onset distal myopathy. Guglielmi V; Pancheri E; Cannone E; Nigro V; Malatesta M; Vettori A; Giorgetti A; Torella A; Aurino S; Cisterna B; Marchetto G; Tomelleri G; Tonin P; Schiavone M; Vattemi G Clin Genet; 2023 Dec; 104(6):705-710. PubMed ID: 37553249 [TBL] [Abstract][Full Text] [Related]
19. Distinct muscle imaging patterns in myofibrillar myopathies. Fischer D; Kley RA; Strach K; Meyer C; Sommer T; Eger K; Rolfs A; Meyer W; Pou A; Pradas J; Heyer CM; Grossmann A; Huebner A; Kress W; Reimann J; Schröder R; Eymard B; Fardeau M; Udd B; Goldfarb L; Vorgerd M; Olivé M Neurology; 2008 Sep; 71(10):758-65. PubMed ID: 18765652 [TBL] [Abstract][Full Text] [Related]
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