Different electrophysiology patterns in GNE myopathy

Orphanet Journal of Rare Diseases

卷:17

Shuo Zhang¹  Danfeng Zheng¹  Dongsheng Fan¹  Xiaoxuan Liu¹  Aping Sun¹  Yingshuang Zhang¹  Xiangyi Liu¹ 

[1] Department of Neurology, Peking University Third Hospital;

关键词: GNE myopathy;    Neurogenic pattern;    Novel mutation;    Muscle pathology;   

DOI  :  10.1186/s13023-022-02355-0

来源: DOAJ

【 摘 要 】

Abstract Background GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported recently. We confirmed this feature and described the clinical phenotype and mutations of GNE myopathy in these rare cases. Results The absence of lower limb tendon reflexes, decreased compound muscle action potentials in lower leg motor nerves, and neurogenic pattern of electromyography suggested neuropathy in four patients. However, muscle pathology revealed a predominantly myogenic pattern. The follow-up electroneurography results implied that the compound motor action potential amplitudes deteriorated over time. Next-generation sequencing identified three novel variants of the GNE gene, c.2054T > C (p.Val685Ala), c.424G > A (p.Gly142Arg) and c.944T > C (p.Phe315Ser), as well as two hotspot mutations, c.115C > T(p.Arg39*) and c.620A > T(p.Asp207Val), in these patients. These novel mutations cosegregated with disease in the family. Conclusions These rare cases supported the existence of neurogenic features of electrophysiology different from the typical myopathic pattern of GNE myopathy.

【 授权许可】

Unknown