Heterogeneous presentation in Leigh syndrome-Reference-Cited by-同舟云学术

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Heterogeneous presentation in Leigh syndrome

Published:1997-09 Issue:5 Volume:20 Page:704-705
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Vilarinho L.¹²,Maia C.³,Coelho T.⁴,Coutinho P.⁴,Santorelli F. M.²

Affiliation:

1. ; Department of Clinical Biology; Instituto de Genética Médica; Porto Portugal

2. ; Department of Neurology, College of Physicians & Surgeons; Columbia University; New York NY USA

3. Department of Pediatrics; Hospital S. Januário; Macau

4. Department of Neurology; Hospital Geral de S. António; Porto Portugal

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005330611147/fullpdf

Reference3 articles.

1. Genetic heterogeneity in Leigh syndrome;DiMauro;Ann Neurol,1996

2. Subacute necrotizing encephalomyelopathy in an infant;Leigh;J Neurol Neurosurg Psychiatry,1951

3. Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion;Santorelli;Neurology,1996

Cited by 15 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. Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era;Genes;2023-07-27

2. Spontaneous event of mitochondrial DNA mutation, A3243G, found in a family of identical twins;Mitochondrial DNA;2012-10-16

3. MITOCHONDRIAL CYTOPATHIES IN CHILDREN AND ADULTS;CONTINUUM: Lifelong Learning in Neurology;2009-12

4. Leigh-like subacute necrotising encephalopathy in Yorkshire Terriers: neuropathological characterisation, respiratory chain activities and mitochondrial DNA;Acta Neuropathologica;2009-05-23

5. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation;Diabetic Medicine;2008-04

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