期刊
NEUROMUSCULAR DISORDERS
卷 29, 期 4, 页码 282-289出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2019.01.001
关键词
Congenital disorder of glycosylation; Glycogen storage disease; PGM1; Whole exome sequencing
资金
- National Natural Science Foundation of China [141571086, 81271262, 81600978, 81200965]
- Shanghai Municipal Education Commission-Gaofeng Clinical Medicine Grant [20161401]
- Interdisciplinary Project of Shanghai Jiao Tong University [YG2016MS64]
- Research Fund for the Doctoral Program of Higher Education [20110073120088]
- Natural Science Foundation of Science and Technology of Shanghai [15ZR1426700]
- Guang Ci Qing Nian Grant [GCQN-2017-A03]
The congenital disorders of glycosylation are a group of clinically and biochemically heterogeneous diseases characterized by multisystem involvement due to glycosylation defect of protein and lipid. Here we report a 49-year-old man with exercise-induced fatigue and pain of muscle, tachypnea. cleft palate and bifid uvula. Exercise induced elevation of serum creatine kinase (CK), ammonia and lactic acid was recorded. The abnormal levels of myoglobin, CK-MB and LDH as well as S-T elevation in electrocardiogram were observed in repeated hospitalization recordings. Electromyography showed myopathic damage. Repetitive nerve stimulation test of low rates showed decrement in the left deltoid muscle. He was identified with a novel homozygous frameshift variant in Phosphoglucomutase type 1 gene (c.405delT p.N135Kfs*9) by whole exome sequencing. Muscle biopsy exhibited minimal variation in fiber size without abnormal glycogen accumulation. Compared with controls', the patient's sample showed no signal at 61 kDa using N- or C-terminus antibody of Phosphoglucomutase type 1 in western blotting. A signal at similar to 20 kDa was detected in patient using N-terminus antibody. Immunofluorescence revealed trace expression of C-terminus and a much lower expression of N-terminus on the sarcolemma than normal. Our findings indicate that c.405delT encodes a truncated protein with abnormal distribution and expression in skeletal muscle. In conclusion, genes associated with congenital disorders of glycosylation should be analyzed in patients with maxillofacial dysplasia, exertional weakness, cardiac involvement and exercise-inducedammoniemia, without glycogen storage in skeletal muscle. (C) 2019 Elsevier B.V. All rights reserved.
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