title: Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
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.
authors.affiliation: Laboratoire d'Anatomie Pathologique et Neuropathologie, Hôpital de la Timone Adultes, 264 rue Saint-Pierre, 13385 Marseille Cedex 05, France. carla.fernandez@ap-hm.fr
authors.forename: Carla
authors.initials: C
authors.lastname: Fernandez
authors.forename: Cécile
authors.initials: C
authors.lastname: Halbert
authors.forename: André Maues
authors.initials: AM
authors.lastname: De Paula
authors.forename: Valerié
authors.initials: V
authors.lastname: Lacroze
authors.forename: Roseline
authors.initials: R
authors.lastname: Froissart
authors.forename: Dominique
authors.initials: D
authors.lastname: Figarella-Branger
authors.forename: Brigitte
authors.initials: B
authors.lastname: Chabrol
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Pellissier
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics*; D001706:Biopsy; D005260:Female; D005838:Genotype; D006011:Glycogen Storage Disease Type IV / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015061:1,4-alpha-Glucan Branching Enzyme