"The condition was first described in 1941 by Denise Louis-Bar (1914-1999), a Belgian neuropsychiatrist 11."
"In less severe cases, termed "ataxia-telangiectasia variants", there is retention of some ATM kinase activity due to either expression of very low levels of normal ATM protein (from splice site mutations) or expression of mutant ATM (from missense mutations) 4."
"In less severe cases, termed "ataxia-telangiectasia variants", there is retention of some ATM kinase activity due to either expression of very low levels of normal ATM protein (from splice site mutations) or expression of mutant ATM (from missense mutations) 4."
"In less severe cases, termed "ataxia-telangiectasia variants", there is retention of some ATM kinase activity due to either expression of very low levels of normal ATM protein (from splice site mutations) or expression of mutant ATM (from missense mutations) 4."
"there is an increased incidence of malignancy (e.g. bowel, pancreatic ductal adenocarcinoma 12, and breast cancer)"
"The condition was first described in 1941 by Denise Louis-Bar (1914-1999), a Belgian neuropsychiatrist 11."
"Friedreich ataxia"
Expected headings
"Complications"
"There is no cure and treatment consists of supportive measures."
"there is an increased incidence of malignancy (e.g. bowel, pancreatic ductal adenocarcinoma 12, and breast cancer)"