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Non‐lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations
Author(s) -
Fernandez Carla,
Halbert Cécile,
De Paula André Maues,
Lacroze Valerié,
Froissart Roseline,
FigarellaBranger Dominique,
Chabrol Brigitte,
Pellissier JeanFrançois
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21499
Subject(s) - missense mutation , compound heterozygosity , heterozygote advantage , mutation , phenotype , genetics , exon , neuromuscular disease , genotype , biology , glycogen storage disease , medicine , gene , disease
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. Muscle Nerve, 2010