Glycogenosis IV (GSD IV) is a rare autosomal recessive disorder. This article reported a congenital GSD IV neuromuscular type with hypotonia, joint symptoms at birth, elevated liver enzymes at 5 months, no abnormalities in the heart and respiratory system, and EMG examination suggested myogenic damage. Liver biopsy results showed extensive hepatocyte degeneration with inclusion bodies and bridging fibrosis, consistent with glycogen accumulation disease type IV. Gene detection results showed that there were two missense mutations in the GBE1 gene, c.475C>T, p.Pro159Leu and c.1229T>G, p.Ile410Arg, are compound heterozygous mutations, and parents are carriers. As of December 2018, a total of 16 foreign literatures and 6 Chinese documents were retrieved. So far, there have been 61 cases of GSD IV type reported globally, including 22 cases of liver type, 39 cases of neuromuscular type, and 13 cases of domestic reports, all of which are liver type. Neuromuscular clinical manifestations were significantly different. This case is the first type of neurogenic muscle type of glycogen accumulation disease reported in China.