Maternally inherited diabetes and A3243G mitocondrial mutation in a Brazilian kindred: diagnosis after clinical suspicion in an internal medicine unit
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چکیده
منابع مشابه
Maternally inherited diabetes and A3243G mitocondrial mutation in a Brazilian kindred: diagnosis after clinical suspicion in an internal medicine unit
Results We report a case of a 44-year's old woman admitted to the Internal Medicine ward with a two weeks history of signs and symptoms of community-acquired pneumonia and heart failure. She was known to have DM since the third decade of life, hearing loss since the adolescence in addition to hypertension and was in use of metformin, losartan, simvastatin and NPH insulin, with recurrent episode...
متن کاملComparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness.
The mitochondrial A3243G mutation is most commonly related to the MELAS syndrome, but can cause many different clinical manifestations at various ages. Here, we present a family with maternally inherited diabetes and deafness (MIDD), the proband of which exhibits hearing loss, diabetes mellitus, cardiomyopathy and short stature. Four easily accessible samples (whole blood, hair roots, buccal sc...
متن کاملA Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness
OBJECTIVE The m.3243A>G mutation in mitochondrial DNA (mtDNA) is responsible for maternally inherited diabetes and deafness (MIDD). Other mtDNA mutations are extremely rare. RESEARCH DESIGN AND METHODS We studied a patient presenting with diabetes and deafness who does not carry the m.3243A>G mutation. RESULTS We identified a deficiency of respiratory chain complex I in the patient's fibrob...
متن کاملFrontotemporal dementia in a Brazilian kindred with the c9orf72 mutation.
OBJECTIVES To describe the clinical features of a Brazilian kindred with C9orf72 frontotemporal dementia-amyotrophic lateral sclerosis and compare them with other described families with C9orf72 and frontotemporal dementia-amyotrophic lateral sclerosis-causing mutations. DESIGN Report of a kindred. SETTING Dementia center at a university hospital. PATIENTS One kindred encompassing 3 gener...
متن کاملMaternally Inherited Type 2 Diabetes and Deafness: Clinical and Molecular Aspect in Pakistan
Background:. A3243G mutation in tRNA Leu (UUR) leads to a specific clinical syndrome characterized by diabetes and sensorineural hearing defect, hence called as “Maternally Inherited Diabetes and Deafness (MIDD)”.. Methods: The study was retrospective, analytical case control study. Non probability convenient sampling technique was used. Subjects were divided into two groups. Thirty-nine patien...
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ژورنال
عنوان ژورنال: Diabetology & Metabolic Syndrome
سال: 2015
ISSN: 1758-5996
DOI: 10.1186/1758-5996-7-s1-a207