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Updated: Jun 19, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations
Carla Fernandez1, Cécile Halbert, André Maues De Paula
1Laboratoire d'Anatomie Pathologique et Neuropathologie, Hôpital de la Timone Adultes, 264 rue Saint-Pierre, 13385 Marseille Cedex 05, France. carla.fernandez@ap-hm.fr
Abstract:
We report a recent case of the severe congenital variant of glycogen storage disease type IV with prolonged survival. The patient was found to be a compound heterozygote for two novel mutations, a missense mutation in exon 5 (p.H188P, c.563A>C) and a severe mutation in intron 5 (c.691+2T>C). We propose that the genotype and the quality of medical care may account for the severe but non-lethal phenotype.
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