C.P.4.04 Zaspopathy with multiminicores

Shalaby, S. W.; Yk, Hayashi; Goto, Katsutoshi; Nonaka, Ikuya; Noguchi, S.; Nishino, Ichizo

doi:10.1016/j.nmd.2007.06.394

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2012

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“…As reported previously, ZASP gene mutations in exon 2 (V55I), exon 4 (S196L, T213I), exon 6 (D117N, K136M), exon 10 (I352M), exon 14 (V588I), and exon 15 (D626N) have been associated with dilated cardiomyopathy, while mutations in exon 6 (A147T, A165V), exon 9 (R268C), and exon 15 (D626N) cause myopathy with or without cardiomyopathy [16,25,26]. To date, p.V566M has not been associated with either cardiomyopathy or myopathy.…”

Section: Discussionmentioning

confidence: 54%

Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people

et al. 2012

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Previous studies have identified several genetic loci associated with development of familial inclusion body myopathy. However, there have been few genetic analyses of sporadic inclusion body myositis (sIBM). In order to explore the molecular basis of sIBM and to investigate genotype-phenotype correlations, we performed a clinicopathological analysis of 21 sIBM patients and screened for mutations in the However, we advocate further clinicopathology and investigation of additional candidate genes in a larger cohort.

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Section: Discussionmentioning

confidence: 54%