A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report-论文-万方医学网

A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report

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作者： Montano, Vincenzo ^[1] ; Mancuso, Michelangelo ^[2] ; Simoncini, Costanza ^[3] ; Torri, Francesca ^[4] ; Chico, Lucia ^[5] ; Ali, Greta ^[6] ; Rocchi, Anna ; Baldinotti, Fulvia ; Caligo, Maria Adelaide ; Lattanzi, Giovanna ; Mattioli, Elisabetta ; Cenacchi, Giovanna ; Barison, Andrea ; Siciliano, Gabriele ; Ricci, Giulia

作者单位： Dept Clin & Expt Med,Univ Pisa ^[1] Dept Surg Pathol Med Mol & Crit Area,Univ Pisa ^[2] Mol Genet,Azienda Osped Univ Pisana ^[3] Inst Mol Genet Luigi Luca Cavalli Sforza,CNR ^[4] Dept Biomed & Neuromotor Sci,Univ Bologna ^[5] UOC Fdn G Monasterio CNR Reg Toscana ^[6]

关键词 Muscle disorders myopathies LMNA-associated diseases mitochondria MITOCHONDRIAL ACCUMULATION CELLS

发布时间 2022-11-11

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