Expanding the clinical spectrum of MTTF mutations-Reference-Cited by-同舟云学术

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Expanding the clinical spectrum of MTTF mutations

Published:2019-12 Issue: Volume:21 Page:100501
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Barcia Giulia,Assouline Zahra,Pennisi Alessandra,Steffann Julie,Boddaert Nathalie,Gitiaux Cyril,Rötig Agnès,Bonnefont Jean-Paul,Munnich Arnold

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference8 articles.

1. G. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome;Mancuso;Neurology,2004

2. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis;Chinnery;Ann. Neurol.,1997

3. MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity;Hanna;J. Neurol. Neurosurg. Psychiatry,1998

4. Novel mitochondrial transfer RNA (Phe) gene mutation associated with late-onset neuromuscular disease;Deschauer;Arch. Neurol.,2006

5. Mitochondrial transfer RNAPhe mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity;Young;Arch. Neurol.,2010

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF;Molecular Genetics and Metabolism Reports;2019-12

2. Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF;Molecular Genetics and Metabolism Reports;2019-12

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