TRIM 32-related Limb Girdle Muscular Dystrophy (LGMD R8/2H) is a rare genetic muscle disease reported in fewer than 100 patients worldwide. Here, we report a male patient with progressive proximo-distal lower limb weakness with onset in the third decade who had mixed myopathic and neurogenic pattern in electrophysiology and muscle biopsy. Clinical exome sequencing revealed a homozygous pathogenic single base pair insertion in exon 2 of the TRIM32 gene confirming the diagnosis of LGMD R8. This is a novel frameshift mutation and one of the very few cases of LGMD R8 reported from India.

中文翻译：

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具有新型 TRIM32 突变的肢带型肌营养不良 R8 的肌神经病表现

TRIM 32 相关肢带型肌营养不良症 (LGMD R8/2H) 是一种罕见的遗传性肌肉疾病，据报道在全球不到 100 名患者中出现。在这里，我们报告了一名男性患者，其在 30 岁时发病，患有进行性近端-远端下肢无力，在电生理学和肌肉活检中具有混合的肌病和神经源性模式。临床外显子组测序显示TRIM32基因外显子 2 中存在纯合致病性单碱基对插入，证实了 LGMD R8 的诊断。这是一种新的移码突变，也是印度报道的极少数 LGMD R8 病例之一。