Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review

Title
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review
Authors
Keywords
Hereditary spastic paraplegias (HSP), Spastic paraplegia 76(SPG76), <em class="EmphasisTypeItalic ">CAPN1</em> mutations, Ataxia
Journal
Orphanet Journal of Rare Diseases
Volume 14, Issue 1, Pages -
Publisher
Springer Nature
Online
2019-04-25
DOI
10.1186/s13023-019-1053-1

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