Pompe Disease: Distal Myopathy In A Previously Unreported Heterozygous Variant (P3.297)

Conclusion: Our patients present the phenotypic heterogeneity of PD under the same genotypic variation in the same family, being ours the first distal myopathy case reported. We also detected a previously unreported heterozygous variant in exon 8 of the GAA gene (c.1198G>A p.V400I). PD is a rare, heterogeneous condition that may mimic many neuromuscular conditions.Disclosure: Dr. Farinhas has nothing to disclose. Dr. Nascimento has nothing to disclose. Dr. Davidovich has nothing to disclose. Dr. Dornas has nothing to disclose. Dr. Pupe has nothing to disclose. Dr. Coutinho has nothing to disclose.

Source: Neurology - April 9, 2014 Category: Neurology Authors: Dib, J., Nascimento, O., Davidovich, E., Dornas, R., Pupe, C., Coutinho, B. Tags: Muscle Disease Source Type: research