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We report two novel mutations in three cases of spinal muscular atrophy (SMA), including two distant cousins who followed an unexpectedly severe course. Diagnosis was confirmed by reduced SMN protein and full-length SMN mRNA levels. Sequencing of the non-deleted SMN1 gene revealed a single G insertion at the end of exon 1 in the two cousins and a novel G275S exon 6 missense mutation in the milder case.

Original publication




Journal article


Hum Genet

Publication Date





356 - 357


Child, Child, Preschool, Cyclic AMP Response Element-Binding Protein, Humans, Male, Muscular Atrophy, Spinal, Nerve Tissue Proteins, Point Mutation, RNA-Binding Proteins, SMN Complex Proteins, Survival of Motor Neuron 1 Protein