A neonatal form of glycogen storage disease type IV

被引：29
|
作者：
Nambu, M
Kawabe, K
Fukuda, T
Okuno, TB
Ohta, S
Nonaka, I
Sugie, H
Nishino, I
机构：
[1] Tenri Hosp, Dept Pediat, Nara, Japan
[2] Natl Ctr Neurol & Psychiat, Dept Neuromuscular Res, Natl Inst Neurosci, Tokyo, Japan
[3] Hamamatsu City Med Ctr Dev Med, Dept Pediat Neurol, Shizuoka, Japan
[4] NCNP, Natl Ctr Hosp Mental Nervous & Muscular Disorders, Tokyo, Japan
来源：
NEUROLOGY | 2003年 / 61卷 / 03期
关键词：
D O I：
10.1212/01.WNL.0000073141.61695.B3
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene.
引用
收藏
页码：392 / 394
页数：3
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