Int J Cardiol. 2009 Nov 12;137(3):e75-6. doi: 10.1016/j.ijcard.2009.04.036. Epub 2009 May 15.
We describe 7 transplanted heart recipients from a single family with limb-girdle muscular dystrophy type 1B linked to a mutation of the LMNA gene in the splice donor site of the exon 9 (IVS 9+1:g>a). These patients did not display higher early postoperative or late complications than other heart transplant recipients at a mean follow-up of 8 years (range 1-17 years). Noticeably, there was no case of rhabdomyolysis and skeletal muscle symptoms were not markedly impaired.
我们描述了 7 名来自同一家庭的心脏移植受者，他们患有 1B 型肢带型肌营养不良症，与 LMNA 基因外显子 9 的剪接供体位点（IVS9+1：g>a）的突变有关。这些患者在平均 8 年的随访期（1-17 年）内，与其他心脏移植受者相比，并未表现出更高的早期术后或晚期并发症。值得注意的是，没有横纹肌溶解症的病例，且骨骼肌症状并未明显受损。
