Succinate-coenzyme Q reductase deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation.
|
22972948 |
2012 |
Leukodystrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation.
|
22972948 |
2012 |
Cardiomyopathies
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation.
|
22972948 |
2012 |
PARAGANGLIOMAS 4
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.
|
26925370 |
2015 |
PARAGANGLIOMAS 4
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
|
26642834 |
2016 |
PARAGANGLIOMAS 4
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
|
22972948 |
2012 |
Pheochromocytoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.
|
26925370 |
2015 |
Gastrointestinal Stromal Tumors
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
|
22972948 |
2012 |
Gastrointestinal Stromal Tumors
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
|
26642834 |
2016 |
PARAGANGLIOMAS 4
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
|
27604842 |
2017 |
Gastrointestinal Stromal Tumors
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
|
27604842 |
2017 |
Pheochromocytoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
|
22972948 |
2012 |
Pheochromocytoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
|
26642834 |
2016 |
Pheochromocytoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
|
27604842 |
2017 |
Gastrointestinal Stromal Tumors
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.
|
26925370 |
2015 |