Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.

Federica Pondrelli,Raffaella Minardi,Lorenzo Muccioli,Corrado Zenesini,Luca Vignatelli,Laura Licchetta,Barbara Mostacci,Paolo Tinuper,Craig W Vander Kooi,Matthew S Gentry,Francesca Bisulli

Orphanet journal of rare diseases（2023）

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摘要

This study demonstrates the existence of prognostic genetic factors in LD, namely the genotype defined according to the functional impact of the pathogenic variants. Although the reasons why NHLRC1 genotype PT/PT is associated with a poorer prognosis have yet to be fully elucidated, it may be speculated that malin plays a pivotal role in LD pathogenesis.

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关键词

lafora disease,pathogenic variants,meta-analysis,patient-level

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