Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling-Reference-Cited by-同舟云学术

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

Published:2016 Issue: Volume: Page:69-77
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Grønborg Sabine,Darin Niklas,Miranda Maria J.,Damgaard Bodil,Cayuela Jorge Asin,Oldfors Anders,Kollberg Gittan,Hansen Thomas V. O.,Ravn Kirstine,Wibrand Flemming,Østergaard Elsebet

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2016_582

Reference31 articles.

1. Alston CL, Davison JE, Meloni F et al (2012) Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet 49:569–577

2. Amar L, Bertherat J, Baudin E et al (2005) Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23:8812–8818

3. Bricout M, Grevent D, Lebre AS et al (2014) Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations. J Med Genet 51:429–435

4. Brockmann K, Bjornstad A, Dechent P et al (2002) Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Ann Neurol 52:38–46

5. Cerecer-Gil NY, Figuera LE, Llamas FJ et al (2010) Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma. Clin Cancer Res 16:4148–4154

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