Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Gorka Fernández-EulateJulian TheurietChristopher J RecordGiorgia QuerinMarion MasingueSarah Leonard-LouisAnthony BehinNadine Le ForestierAntoine PegatMaud MichaudJean-Baptiste ChansonAleksandra Nadaj-PaklezaCeline TardAnne-Laure Bedat-MilletGuilhem SoleMarco SpinazziEmmanuelle Salort-CampanaAndoni Echaniz-LagunaVianney PoinsignonPhilippe LatourMary M ReillyFrancoise BouhourKristl G ClaeysPublished in: Neurology. Genetics (2023)
Non-5q SMA is genetically heterogeneous, and neuropathy gene panels achieve a molecular diagnosis in one-third of the patients. The diagnostic yield can be increased by sequencing of other neuromuscular and neurometabolic genes. Nevertheless, there is an unmet need to cluster these patients to aid in the identification of new genes.