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.

中文翻译：

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指纹体与杆的关联是由于 LMOD3 基因的突变

在各种临床情况下观察到指纹体，目前还没有确定明确的遗传原因。我们首次报告了一名患者的指纹体与杆的关联，该患者患有影响面部和四肢的缓慢进行性肌病。超微结构检查首先显示指纹体，第二次活检显示相关的细胞质体和棒。先天性线状体肌病基因的下一代测序面板允许鉴定两个新的变异，一个位于 WASP 同源 2 域的有害错义变异（c.1628G>T，p.Arg543Leu）和一个缺失（c.366delG，p .Lys122AsnFs*6) 在 LMOD3 基因中，通常会导致严重的线状体肌病，产前发病和早逝。最近，已经报道了与我们的病例相似的不太严重的表型。