Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction

• Ngā kaituhi matua: Carolina Lopes (Author), Fernando Silveira (Author), Goreti Nadais (Author), Miguel Leão (Author)
• Hōputu: Pukapuka
• I whakaputaina: Annals of Musculoskeletal Medicine - Peertechz Publications, 2019-12-18.
• Ngā marau: Case Study
• Urunga tuihono: Connect to this object online.

<p>Background: Spastic Paraplegia 26 (SPG26) is a complex type of spastic paraplegia caused by B4GALNT1 gene pathogenic variants, and is characterized by childhood/adolescence onset of progressive spastic paraplegia associated with mild to moderate cognitive impairment and developmental delay,...