Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
Zhang Q, Yang Q, Luo J, Zhou X, Yi S, Tan S, Qin Z.
Zhang Q, et al.
BMC Med Genomics. 2024 Jan 31;17(1):44. doi: 10.1186/s12920-024-01805-x.
BMC Med Genomics. 2024.
PMID: 38297306
Free PMC article.
RESULTS: Both patients were characterized by slurred speech, astasia, inability to walk, scoliosis, lower limb hypertonia, ankle clonus, contracture of joint, foot pronation and no psychomotor retardation was found. ...
RESULTS: Both patients were characterized by slurred speech, astasia, inability to walk, scoliosis, lower limb hypertonia …