Hereditary spastic paraplegia type 26 with a novel mutation in B4GALNT1 gene and literature review of the clinical features
Author:
Affiliation:
1. Department of Pediatric Neurology, Adana, Turkey
2. Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey
Publisher
Medknow
Subject
General Neuroscience,Pediatrics, Perinatology and Child Health
Reference9 articles.
1. The prevalence of “pure” autosomal dominant hereditary spastic paraparesis in the island of Ireland;McMonagle;J Neurol Neurosurg Psychiatry,2002
2. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance;Finsterer;J Neurol Sci,2012
3. Expanding the phenotype of spastic paraplegia 26: report of 4 cases with hearing dysfunction;Lopes;Ann Musculoskelet Med,2019
4. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14;Wilkinson;J Med Genet,2005
5. Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype;Dad;Neurol Genet,2017
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