J Clin Neurol.  2019 Apr;15(2):271-272. 10.3988/jcn.2019.15.2.271.

A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia

• Chen Y
• Cen Z
• Zheng X
• Xie F
• Chen S
• Luo W

• KMID: 2467748
• DOI: http://doi.org/10.3988/jcn.2019.15.2.271

Abstract

No abstract available.

MeSH Terms

Asian Continental Ancestry Group*
Humans
Spastic Paraplegia, Hereditary*

Figure

• 

  Fig. 1 The family tree. A: Black and white symbols indicate affected and healthy subjects, respectively. The arrow indicates the proband. Electropherograms of the variant c.1015C>T in CAPN1. B: The mutant nucleotide is boxed. het: heterozygous, hom: homozygous.

Reference

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