Literature DB >> 33484420

Isolated mitochondrial myopathy due to m.3243A > G mutation in MT-TL1 gene.

Rohan R Mahale1, Jyothi Gautham2, Pooja Mailankody2, Hansashree Padmanabha2, P S Mathuranath2.   

Abstract

Entities:  

Keywords:  MT-TL1 gene; Mitochondria; Myopathy; m.3243A > G

Mesh：

Substances：

Year:  2021        PMID： 33484420     DOI： 10.1007/s13760-021-01598-1

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.471


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  4 in total

1.  Respiratory insufficiency in a Chinese adult with mitochondrial myopathy.

Authors:  K C Chang; Y F Mak; W C Yu; K K Lau; W W Yan; T C Chow
Journal:  Hong Kong Med J       Date:  2002-04       Impact factor: 2.227

2.  Fulminant respiratory muscle paralysis, an expanding clinical spectrum of mitochondrial A3243G tRNALeu mutation.

Authors:  Jakkrit Amornvit; Nath Pasutharnchat; Monvasi Pachinburavan; Sungkom Jongpiputvanich; Yutthana Joyjinda
Journal:  J Med Assoc Thai       Date:  2014-04

3.  Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA(Leu(UUR))gene.

Authors:  C C Yang; C C Hwang; C Y Pang; Y H Wei
Journal:  J Formos Med Assoc       Date:  1998-10       Impact factor: 3.282

4.  Acute Respiratory Failure Is the Initial Manifestation in the Adult-Onset A3243G tRNALeu mtDNA Mutation: A Case Report and the Literature Review.

Authors:  Xiaoli Pan; Lijun Wang; Guoqiang Fei; Jihong Dong; Chunjiu Zhong; Jiahong Lu; Lirong Jin
Journal:  Front Neurol       Date:  2019-07-18       Impact factor: 4.003
  4 in total
  1 in total

Review 1.  Molecular Genetics Overview of Primary Mitochondrial Myopathies.

Authors:  Ignazio Giuseppe Arena; Alessia Pugliese; Sara Volta; Antonio Toscano; Olimpia Musumeci
Journal:  J Clin Med       Date:  2022-01-26       Impact factor: 4.241
  1 in total

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