MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation
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چکیده
منابع مشابه
MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.
BACKGROUND the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. METHODS retrospective and ongoing study of an extend...
متن کاملA case of Melas (A3243G) on chronic dichloroacetate treatment.
eralized epileptic dysfunction, more marked in the right regions, and phenytoin was started. Mild perceptive deafness was also present. CSF and plasma routine examination was normal. The EMG suggested a moderate axonal neuropathy, mainly involving the lower limbs. Since the muscular biopsy was compatible with mitochondrial involvement, leukocyte mitochondrial DNA was sequenced, showing an A3243...
متن کاملClinical features of MELAS and its relation with A3243G gene point mutation.
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. This study therefore investigated the relation between MELAS clinical features and point mutation A324...
متن کاملNerve conduction abnormalities in patients with MELAS and the A3243G mutation.
BACKGROUND Mitochondrial DNA point mutations are especially deleterious to tissues with high energy demand, including the peripheral nervous system. Neuropathy has been associated with several mitochondrial diseases, including MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes). OBJECTIVE To evaluate nerve conduction in a genotypically and phenotypically homogene...
متن کاملMELAS syndrome, diabetes and thyroid disease: the role of mitochondrial oxidative stress.
The mitochondrial DNA mutation MTTL1 A3243G causes MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like episodes). The A3243G mutation is also associated with variable endocrinopathies. We describe 2 case histories of patients with the A3243G mutation. The first patient presented with diabetes and uncontrolled Graves’ thyrotoxicosis in association with a strokelike epis...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2014
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100016607