Mutations in immunoglobulin µ-binding protein 2 gene (IGHMBP2) had been linked to spinal muscular atrophy with respiratory distress (SMARD1) and other less severe phenotypes. We present 4 patients with genetically confirmed IGHMBP2 mutations showing phenotypic heterogeneity. The first two cases with early onset SMARD1 phenotype corresponded to one boy and one girl that presented intrauterine growth retardation, early hypotonia and progressive respiratory distress with distal weakness. Nerve conduction studies showed axonal neuropathy.

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