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23 patient data entries in database for mutation L304R. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 10 | L304R3
| A143V1
| Cerebral cavernous malformation, teen onset CPEO. 110% mtDNA copy number in blood. | | | n/a | 22 | n/a | Tang et al, 2011; [view data] | | 42 | L304R3
| P587L2
T251I
| PEO, myopathy, ataxia. | | - | movement disorder (ataxia) | |
| | 45 | 74 | n/a | Horvath et al, 2006; [view data] | | 43 | L304R3
| T251I
P587L2
| PEO, Neuropathy. Affect sibling. | | | 60 | 68 | n/a | Horvath et al, 2006; [view data] | | 50 | L304R3
| L304R3
| Seizures, ptosis, elevated transaminases, lactic acidosis, elevated dopamine, abnormal MRI. 48% mtDNA copy number in muscle, 26% mtDNA copy number in liver. | | | n/a | 4 | n/a | Tang et al, 2011; [view data] | | 51 | L304R3
| L304R3
| CPEO, muscle weakness, ptosis, ataxia. 53% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 10 | n/a | Tang et al, 2011; [view data] | | 55 | L304R3
| L304R3
| CPEO, ptosis, ataxia, abnormal EMG/NCV, cerebellar atrophy, large mitochondrial proliferation, ragged red fibers, easy fatigability, abnormal muscle histology, hypotonia, lactic acidosis, high CSF lactate, organic aciduria/tiglyglycine, low plasma carnitine. 36% mtDNA copy number in muscle, 22% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | abnormal muscle histology | |
| | n/a | 9 | n/a | Tang et al, 2011; [view data] | | 56 | L304R3
| L304R3
| Peripheral neuropathy exercise intolerance, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, lactic acidosis, CPK abnormalities, short stature, FTT, abnormal VERS, developmental delay, abnormal respiratory enzymes, ragged red fibers. 37% mtDNA copy number in muscle, 20% mtDNA copy number in blood. | | | n/a | 12 | n/a | Tang et al, 2011; [view data] | | 57 | L304R3
| L304R3
| Peripheral neuropathy, exercise intolerance, muscle weakness, abnormal EMG/NCV, ptosis, lactic acidosis, COX deficiency, CPEO. 58% mtDNA copy number in blood. | | | n/a | 9 | n/a | Tang et al, 2011; [view data] | | 58 | L304R3
| L304R3
| Peripheral neuropathy exercise intolerance, muscle weakness, easy fatigability, abnormal EMG/NCV, ptosis, CPK abnormalities, short stature, abnormal muscle histology, ragged red fibers, elevated pyruvate. 45% mtDNA copy number in blood. | | - | abnormal muscle histology | |
| | n/a | 23 | n/a | Tang et al, 2011; [view data] | | 59 | A467T2
| L304R3
| myopathy, PEO, dysarthria. | | | 16 | n/a | 37 | Van Goethem et al, 2003a; [view data] | | 60 | A467T2
| L304R3
| sensory ataxic neuropathy, PEO, dysarthria. | | | 25 | n/a | n/a | Van Goethem et al, 2003a; [view data] | | 61 | G737R5
| L304R3
| Muscle weakness, ptosis, ophthalmoparesis/CPEO. 61% mtDNA copy number in blood. | | | n/a | 54 | n/a | Tang et al, 2011; [view data] | | 62 | W748S5
E1143G
| L304R3
| SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle. | | | 20 | n/a | 27 | Naimi et al, 2006; [view data] | | 63 | R1081P3
| L304R3
| Age 10, encephalopathy, ataxia, seizures, myoclonic seizures, pyramidal signs, dystonia, choria, muscle weakness, CPEO, ptosis, elevated alanine, abnormal EEG, MRS/lactate peak. 79% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 10 | n/a | Tang et al, 2011; [view data] | | 448 | G888D1
| L304R3
| Alpers, psychomotor retardation, epileptic encephalopathy, progressive cerebral atrophy and altered liver enzymes, mtDNA depletion. Patient 9. Age of onset information obtained from corresponding author via email. | | | 1 | n/a | 1.33 | Navarro-Sastre et al, 2012; [view data] | | 449 | L304R3
| Y282D
| Alpers, intractable convulsions and severe epileptic status, high mtDNA depletion (8% residual mtDNA). Patient 10. Age of onset information obtained from corresponding author via email. | | | 1.75 | n/a | n/a | Navarro-Sastre et al, 2012; [view data] | | 569 | L304R3
| A467T2
| psychiatric symptoms, ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, areflexia. | | | 16 | 28 | n/a | Van Goethem et al, 2001; [view data] | | 570 | L304R3
| A467T2
| ocular symptoms, psychiatric symptoms, ptosis, opthalmoplegia, muscle weakness, distal sensory neuropathy, areflexia, pes cavus. | | | 25 | 38 | n/a | Van Goethem et al, 2001; [view data] | | 571 | L304R3
| A467T2
| ocular symptoms, ptosis, opthalmoplegia, dysphagia, muscle weakness, areflexia, retinopathy. | | | 24 | 34 | n/a | Van Goethem et al, 2001; [view data] | | 678 | | L304R3
| SANDO syndrome, Sensory motor demyelinating neuropathy | | - | demyelinating neuropathy | |
| | n/a | 10 | n/a | Bindu et al, 2016; [view data] | | 679 | | L304R3
| CPEO, Sensory motor axonal neuropathy | | - | demyelinating neuropathy | |
| | n/a | 26 | n/a | Bindu et al, 2016; [view data] | | 680 | | L304R3
| Mitochondrial spinocerebellar ataxia epilepsy syndrome, motor axonal neuropathy | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | n/a | 6 | n/a | Bindu et al, 2016; [view data] | | 685 | L304R3
| L304R3
| Relatively Mild phenotype | | | 10 | 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: 23
Number of patient cases marked as outliers: 3 (cases excluded from avg: 678, 679, 680)
Avg age of onset in displayed cases: 19.8
Std dev in onset in displayed cases: 15.9
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