|
15 patient data entries in database for mutation R1096C. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 149 | R1096C3
| P648R5
| Onset at 53 years with PEO, neuropathy. | | | 53 | n/a | n/a | Horvath et al, 2006; [view data] | | 182 | R1096C3
| G848S1
| Developmental delay, hypotonia, dementia/encephalopathy, exercise intolerance, muscle weakness, easy fatigability, ptosis, GI reflux, delayed gastric emptying, cyclic vomiting, hepatic failure, elevated transaminases, lactic acidosis, short statue, FTT. 53% mtDNA copy number in blood. | | - | delayed gastric emptying | |
| | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 199 | R1096C3
| T914P1
| reported as Alpers, onset at <1 year, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 7% mtDNA copy number in liver, 23% mtDNA copy number in muscle | | - | movement disorder (ataxia) | |
| | 1 | n/a | n/a | Ashley et al, 2008; [view data] | | 223 | R1096C3
| R1096C3
| Seizures, liver failure. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] | | 224 | R1096C3
| R1096C3
| Developmental delay, seizure, lactic acidosis, elevated transaminases. 50% mtDNA copy number in blood. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 225 | R1096C3
| R1096C3
| Seizures, dementia/encephalopathy. 56% mtDNA copy number in blood. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] | | 226 | R1096C3
Q1236H
| R1096C3
Q1236H
| Onset at 2 years with encephalopathy, hepatopathy, and myoclonus achalasia. Diagnosed as Alpers. | | | 2 | n/a | n/a | Horvath et al, 2006; [view data] | | 355 | R1096C3
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal and proximal neurogenic change | | | 17 | 42 | n/a | Lax et al, 2012a; [view data] | | 358 | R1096C3
| W748S5
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, epilepsy, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy | | | 25 | 49 | n/a | Lax et al, 2012a; [view data] | | 477 | R1096C3
| R1096C3
| altered sensorium, seizures (requiring ventilation and critical-care management), hypotonia and mild hepatomegaly. Child deteriorated rapidly because of liver failure and died within two weeks of admission. Mainly hepatic failure and central nervous system (CNS) involvement (encephalopathy, seizures), high plasma lactate levels – and family history, a clinical diagnosis of mitochondrial disorder of the mtDNA depletion (Alpers – Huttenlocher syndrome or Pyruvate carboxylase deficiency) was made. mtDNA depletion syndrome. | | | 0.3 | 0.6 | 0.6 | Bijarnia-Mahay et al, 2014; [view data] | | 515 | R1096C3
| L591F2
| sensory ataxic neuropathy, dysarthria, ophthalmoplegia, and dysphagia. At the age of 41, progressive diplopia and ptosis were added to the symptoms. Five years later, she gradually had dysarthria and restless leg syndrome. ragged red fibers. | | | 38 | 48 | n/a | Kurt et al, 2012; [view data] | | 587 | R1096C3
| R1096C3
| Alpers. Multifocal therapy-refractory epilepsy. hippocampal sclerosis. COX-negative fibers, reduced mtDNA copy number. mtDNA deletions. | | | n/a | 1 | n/a | Stewart et al, 2011; [view data] | | 620 | | R1096C3
| PEO, bilateral ptosis, severe limitation of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA. | | | 23 | n/a | n/a | Agostino et al, 2003; [view data] | | 640 | R1096C3
Q1236H
| R1096C3
Q1236H
| developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 683 | R1096C3
| R1096C3
| Epilepsy, Cellular depletion, Hepatopathy | | | 0.42 | n/a | n/a | Ashley et al, 2008; [view data] |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details. Number of displayed patient cases: 15
Avg age of onset in displayed cases: 11.2
Std dev in onset in displayed cases: 16.0
|