NON-LETHAL NEONATAL NEUROMUSCULAR VARIANT OF GLYCOGENOSIS TYPE IV WITH NOVEL GBE1 MUTATIONS
NON-LETHAL NEONATAL NEUROMUSCULAR VARIANT OF GLYCOGENOSIS TYPE IV WITH NOVEL GBE1 MUTATIONS
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DOI：
10.1002/mus.21499
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发表时间：
2010-02-01
期刊：
影响因子：
3.4
通讯作者：
Pellissier, Jean-Francois
中科院分区：
文献类型：
--
作者：
Fernandez, Carla;Halbert, Cecile;Pellissier, Jean-Francois
我们最近报告了一例严重先天性变异型 IV 型糖原累积病，且生存期延长。该患者被发现是两个新突变的复合杂合子，即外显子5的错义突变（p.H188P，c.563A>C）和内含子5的严重突变（c.691+2T>C）。我们认为基因型和医疗质量可能是造成严重但非致命表型的原因。肌肉神经 41：269-272，2010
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 41: 269-272, 2010