A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family

Brain. 2021 Feb 12;144(1):e11. doi: 10.1093/brain/awaa357.

Authors

Hai-Lin Dong^{1

2}, Lei Chen^{1

2}, Zhi-Ying Wu^{1

2}

Affiliations

¹ Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
² Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.

PMID: 33578420
DOI: 10.1093/brain/awaa357

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

China
Codon, Nonsense* / genetics
Humans
Peripheral Nervous System Diseases*
Phenotype
Spectrin

Substances

Codon, Nonsense
Spectrin