Article
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Brain : a journal of neurology - 14 Sept 2022
Tábara Luis Carlos, Al-Salmi Fatema, Maroofian Reza, Al-Futaisi Amna Mohammed, Al-Murshedi Fathiya, Kennedy Joanna, Day Jacob O, Courtin Thomas, Al-Khayat Aisha, Galedari Hamid, Mazaheri Neda, Protasoni Margherita, Johnson Mark, Leslie Joseph S, Salter Claire G, Rawlins Lettie E, Fasham James, Al-Maawali Almundher, Voutsina Nikol, Charles Perrine, Harrold Laura, Keren Boris, Kunji Edmund R S, Vona Barbara, Jelodar Gholamreza, Sedaghat Alireza, Shariati Gholamreza, Houlden Henry, Crosby Andrew H, Prudent Julien, Baple Emma L
Abstract excerpt
The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. They comprise a large group of neurodegenerative diseases that may be divided into 'pure HSP' in forms of the disease primarily entailing progressive lower-limb weakness and spasticity, and 'complex HSP' when these features are accompanied by other neurological (or non-neurological) clinical signs. Here, we...
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