Abstract
AbstractThe spectrum of disorders associated with the IGHMBP2 (immunoglobulin μ-binding protein 2) gene pathogenic variants is still unknown. In this case report, we discussed an interesting case of genetically confirmed spinal muscular atrophy with respiratory distress type 1 (SMARD1) with atypical sparing of the diaphragm, thus expanding the phenotypic spectrum of this intriguing disorder and also highlight the importance of reconsidering the selection criteria for considering IGHMBP2 pathogenic variants.
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