Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant
Ikura H, Kitakata H, Endo J, Moriyama H, Sano M, Tsujikawa H, Sawano M, Masuda T, Ohki T, Ueda M, Kosaki K, Fukuda K. Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant. European Journal Of Medical Genetics 2022, 65: 104451. PMID: 35149236, DOI: 10.1016/j.ejmg.2022.104451.Peer-Reviewed Original ResearchConceptsTTR amyloid depositionTTR gene sequencingFirst patientAmyloid depositionCardiac symptomsMyocardial biopsiesHeart failure symptomsEarly therapeutic interventionCarpal tunnel syndromeFat pad biopsyFamily medical historyRare autosomal dominant disorderTTR geneEarly genetic diagnosisAutosomal dominant disorderNeurological manifestationsSecond patientClinical manifestationsFinal patientTunnel syndromeFamilial patientsMedical historyPatient prognosisFailure symptomsFamilial history