A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA-Reference-Cited by-同舟云学术

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A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA

Published:2001-07 Issue:5 Volume:11 Page:470-476
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Nagashima Toshiko,Kato Hideo,Maguchi Shiro,Chuma Takayo,Mano Yukio,Goto Yu-ichi,Nonaka Ikuya,Nagashima Kazuo

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference32 articles.

1. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS);Goto;Biochim Biophys Acta,1991

2. Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a comparative study;Sakuta;J Neurol Sci,1993

3. Clinical features of MELAS and mitochondrial DNA mutations;Goto;Muscle Nerve,1995

4. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS;Santorelli;Biochem Biophys Res Commun,1997

5. A caucasian family with the 3271 mutation in mitochondrial DNA;Marie;Biochem Med Metab Biol,1994

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1. Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations;Current Pharmaceutical Design;2020-02-25

2. MERRF Classification: Implications for Diagnosis and Clinical Trials;Pediatric Neurology;2018-03

3. Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation;Biochemical and Biophysical Research Communications;2015-03

4. Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes in a Japanese child: Clinical, radiological and molecular genetic analysis;Egyptian Journal of Medical Human Genetics;2013-07

5. Metabolic neuropathies and myopathies;Handbook of Clinical Neurology;2013

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