No MELAS syndrome without heteroplasmy levels or multisystem examination
نویسندگان
چکیده
منابع مشابه
Impaired respiratory function in MELAS-induced pluripotent stem cells with high heteroplasmy levels
Mitochondrial diseases are heterogeneous disorders, caused by mitochondrial dysfunction. Mitochondria are not regulated solely by nuclear genomic DNA but by mitochondrial DNA. It is difficult to develop effective therapies for mitochondrial disease because of the lack of mitochondrial disease models. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is...
متن کاملLow blood heteroplasmy-rate may cause late-onset MELAS☆☆☆★
Letter to the Editor The interesting article by Sunde et al. about a 54 yo female with MELAS due to the m.3243ANG mutation with a blood heteroplasmyrate of 31% and manifesting with recurrent stroke-like episodes(SLEs), tonic-clonic seizures, migraine, hypothyroidism, short stature, fatigability, and hearing-loss [1] raises the following comments and concerns. For epilepsy the patient was initia...
متن کاملArrhythmias in MELAS syndrome
With interest we read the article by Thomas et al. about a 44 year old female with MELAS syndrome due to the m.3243ANG mutation, which manifested cardiologically as hypertrophic cardiomyopathy and episodes of supraventricular tachycardia requiring atenolol [1]. We have the following comments and concerns. MELAS may be associated with sudden cardiac death [2]. Did the authors consider implantati...
متن کاملMELAS SYNDROME IN TWO IRANIAN CHILDREN
MELAS syndrome is a mitochondrial disorder with progressive nature, because adequate treatment is not available. Diagnosis of this mitochondrial disorder depends initially on clinical suspicion, which is strengthened by additional metabolic evidence of impaired oxidative metabolism such as high serum or C.S.F. lactate levels and confirmed by demonstration of mitochondrial abnormalities-in ...
متن کاملMELAS Syndrome (A Case Report)
= Abstract =MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) is a rare and currently incompletely defined mitochondrial disease involving mainly muscle and brain. We have recently seen a 17-year-old male patient who, we believe, is the first Korean case. The patient showed the classical picture of MELAS: short stature, generalized limb weakness, ...
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: Neurología (English Edition)
سال: 2020
ISSN: 2173-5808
DOI: 10.1016/j.nrleng.2018.07.011