Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

In the Research Article “Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy” by Fernández-Eulate et al.,¹ the last 3 sentences of the Results section's final paragraph should read as follows:

“Direct sequencing of the COL6A3 gene found a previously reported homozygous c.7447A>G variant²² as well as a previously undescribed heterozygous missense variant (c.5867A>G), which could possibly acts as a modulator of the disease. A sibling, who presents a similar clinical phenotype and a predominant neurogenic ENMG and muscle biopsy carried the same variants. Their mother was heterozygous for the c.7447A>G variant and the father was deceased.”

The authors regret the errors.