Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G
نویسندگان
چکیده
منابع مشابه
Family migraine with mitochondrial DNA A3111T mutation
Complicated Migraine is a core syndrome of mitochondrial disease. We report a family with the clinical manifestations of migraine, increased serum lactate, shortness of stature, hearing and memory impairment with maternal inheritance. The proband was revealed to have hypometabolism through PGD-PET brain scanning, and focal dystonia, tunnel vision, and early dementia in clinic. In conclusion, A3...
متن کاملMitochondrial A3243G mutation with manifestation of acute dilated cardiomyopathy.
A 35-year-old woman (body mass index, 16 kg/m ; height, 140 cm) presented to the emergency ward with severe dyspnea of acute onset. The medical history was noteworthy for bilateral hypacusis treated with a hearing aid. On admission, the laboratory results revealed an N-terminal prohormone of brain natriuretic peptide level of 10 219 ng/L (normal 200 ng/L). Thoracic CT scan excluded pulmonary em...
متن کاملSingle-cell A3243G mitochondrial DNA mutation load assays for segregation analysis.
Segregation of mitochondrial DNA (mtDNA) is an important underlying pathogenic factor in mtDNA mutation accumulation in mitochondrial diseases and aging, but the molecular mechanisms of mtDNA segregation are elusive. Lack of high-throughput single-cell mutation load assays lies at the root of the paucity of studies in which, at the single-cell level, mitotic mtDNA segregation patterns have been...
متن کاملMitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.
AIMS To report on a family with five members who carry the A3243G mutation in mitochondrial tRNA for leucine 1 (MTTL1) and present with diabetes, chronic intestinal pseudo-obstruction (CIPO) and recurrent pancreatitis, and to screen for this mutation in a cohort of 36 unrelated patients with recurrent pancreatitis. METHODS The mutation was quantified in several tissue samples from patients. R...
متن کاملHearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation.
OBJECTIVE To determine whether there are common symptoms within different phenotypes of the mitochondrial DNA A3243G mutation. DESIGN A series of 52 adults with mitochondrial encephalomyopathies and their symptomatic relatives were screened for the A3243G mutation using restriction enzyme analysis. In addition to clinical examination, patients with the mutation underwent audiometry. RESULTS...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Acta Médica Portuguesa
سال: 2017
ISSN: 1646-0758,0870-399X
DOI: 10.20344/amp.8638