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Abstract：
Fingerprint bodies are observed in a variety of clinical situations with no definite genetic cause identified so far. We report for the first time the association of fingerprint bodies with rods in a patient who developed a slowly progressive myopathy affecting the face and limb extremities. Ultrastructural examination first disclosed fingerprint bodies and on a second biopsy, associated cytoplasmic bodies and rods. Next Generation Sequencing panel of congenital nemaline myopathy genes allowed the identification of two novel variants, a deleterious missense variant (c.1628G>T, p.Arg543Leu) located in the WASP-homology 2 domain, and a deletion (c.366delG, p.Lys122AsnFs*6) in the LMOD3 gene, generally causing severe nemaline myopathy with antenatal onset and early death. Recently, a less severe phenotype similar to our case has been reported. Our study confirms the existence of milder phenotypes linked to LMOD3 mutations and underlines that fingerprint bodies, though not specific, may be an early ultrastructural marker that could be linked, among others, to nemaline myopathy.
摘要：
指纹体可以在多种临床情况下观察到，到目前为止还没有确定的遗传原因。我们首次报道了患有缓慢进行性肌病影响面部和四肢的患者的指纹体与杆的关联。超微结构检查首先公开了指纹体，然后进行了第二次活检，相关的细胞质体和杆。下一代先天性线虫性肌病基因测序小组允许鉴定两个新的变体，一种有害的错义变体(c.1628G>T，p.Arg543Leu）位于WASP同源2域中，和一个删除(c.366delG，p.Lys122AsnFs*6）在LMOD3基因中，通常导致严重的线虫肌病，产前发病和早期死亡。最近,据报道,与我们的病例相似的不太严重的表型.我们的研究证实了与LMOD3突变相关的温和表型的存在，并强调了指纹体，虽然不具体，可能是一个早期的超微结构标记，其中,线虫肌病。
