Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the Gene

• Үндсэн зохиолчид: Rohan Sharma MD (Зохиогч), Akilandeswari Aravindhan MD (Зохиогч), Clara Puente BS (Зохиогч), Aravindhan Veerapandiyan MD (Зохиогч)
• Формат: Ном
• Хэвлэсэн: SAGE Publishing, 2022-12-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by triad of progressive cerebellar ataxia, progressive spasticity, and axonal/demyelinating peripheral neuropathy. Other manifestations include dysarthria, weakness in lower extremities and distal muscle wasting, foo...