A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive FKRP variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant.

中文翻译：

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具有新型FKRP基因变异的LGMD2I患者的Duchenne肌营养不良样表型。

一名32岁的男性最初被诊断出患有Duchenne型肌营养不良症（DMD）。遗传分析显示了两个新颖的杂合FKRP变体：c.169G> A（p.Glu57Lys）和c.692G> A（p.Trp231 *）。这些结果表明该患者患有由隐性FKRP变异引起的2I型肢带型肌营养不良症（LGMD2I）。LGMD2I和DMD患者具有许多重叠的表型。具有DMD表型但无DMD致病变异的患者应考虑LGMD2I。