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21 patient data entries in database for clusters 1 and 2 in age group "adult". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 227 | A467T2
| S1104C1
| PEO, bilateral ptosis, severe limita- tion 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. | | | 48 | n/a | n/a | Agostino et al, 2003; [view data] | | 604 | G848S1
| T251I
P587L2
| PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle. | | | n/a | n/a | n/a | Lamantea et al, 2002; [view data] | | 524 | G517V2
| Y955C1
| Peripheral neuropathy, myopathy, ptosis, CPEO, COX deficiency, ragged red fibres | | | n/a | 47 | n/a | Tang et al, 2011; [view data] | | 503 | R869Q1
| P587L2
T251I
| Pareses, ptosis, ataxia, sensory neoropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 29 | 34 | n/a | Hanisch et al, 2014; [view data] | | 484 | N468D2
| A1105T1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, general fatigue, muscle weakness, periodic depression, parkinsons, premature menopause. | | | 32 | 50 | n/a | Luoma et al, 2004; [view data] | | 483 | N468D2
| A1105T1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, Excercise intolerance, muscle pain, sensory axonal neuropathy, Parkinsons | | - | demyelinating neuropathy | |
| | 21 | 40 | n/a | Luoma et al, 2004; [view data] | | 482 | N468D2
| A1105T1
| Ptosis, PEO, Cataracts, sensory axonal neuropathy, moderate motor neuropathy, rigidity, bradykinesia, resting tremor, Parkinsons, muscle weakness. | | - | demyelinating neuropathy | |
| | 30 | 49 | 51 | Luoma et al, 2004; [view data] | | 419 | M919T1
| A467T2
| Peripheral neuropathy, PEO, ataxia | | - | movement disorder (ataxia) | |
| | 23 | 41 | n/a | Amiot et al, 2009; [view data] | | 313 | G848S1
| T251I
P587L2
| progressively droopy eyelids, double vision, gait instability, proximal arm weakness, ragged red and ragged blue (succinate dehydrogenase–positive) fibers in about 3% and 6% of all muscle fibers, bilateral ptosis, diplopia, dysarthria, myopathy involving the facial muscles, sensory ataxic polyneuropathy | | | n/a | 80 | n/a | Weiss and Saneto, 2010; [view data] | | 276 | R1138C1
| A467T2
| Bilateral ptosis, distal lower limbs paresthesias, dysphagia, imbalance, inattention, ophthalmoparesis, Multiple mtDNA deletions detected by PCR in blood and muscle | | | 46 | 54 | n/a | Milone et al, 2011; [view data] | | 250 | G848S1
| T251I
P587L2
| PEO, severe ophthalmoplegia and ptosis, which appeared insidiously and had been present clinically since the age of 55. Muscle biopsy at age 68 revealed mitochondrial myopathy, as well as muscle inflammation with granulomas. multiple mtDNA deletions in muscle tissue. | | | 55 | 75 | n/a | Kollberg et al, 2005; [view data] | | 4 | A467T2
| F88L1
| Clinical indications reported as N/A only information provided is age of patient and 71% mtDNA copy number in blood. | | | n/a | 42 | n/a | Tang et al, 2011; [view data] | | 136 | A889T1
| R579W2
| Onset at age 30 with ptosis, later development of ataxia orthostatic dizziness, cataracts, GI dysmotility with diarrhea and constipation. | | - | movement disorder (ataxia) | |
| | 30 | n/a | n/a | Filosto et al, 2003; [view data] | | 131 | D1184N1
| N468D2
| PEO and tetraparesis, serum CK level elevated. | | | 32 | n/a | n/a | Gonzalez-Vioque et al, 2006; [view data] | | 128 | R1138C1
| A467T2
| Onset 48 years with neuropathy, myopathy, SANDO, lactic acidosis PEO. | | | 48 | n/a | n/a | Wong et al, 2008; [view data] | | 30 | V1106I1
| T251I
P587L2
| PEO with myopathy | | | n/a | 35 | n/a | Horvath et al, 2006; [view data] | | 28 | K1191N1
| P587L2
T251I
| Stroke/ischaemic episodes, peripheral neuropathy, CPEO, abnormal EMG/NCV, ptosis, muscle weakness, headache/migraine. 167% mtDNA copy number in blood. | | | n/a | 39 | n/a | Tang et al, 2011; [view data] | | 27 | G848S1
| T251I
P587L2
| Ocular bulbar weakness, peripheral neuropathy, muscle weakness, CPEO, ptosis, hypothyroidism, abnormal muscle histology, abnormal muscle ultrastructure, large mitochondrial proliferation, ragged red fibers. 96% mtDNA copy number in blood. Patient II-44. | | - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 81 | n/a | Tang et al, 2011; [view data] | | 26 | H932Y1
| T251I
P587L2
| Peripheral neuropathy, ptosis, muscle weakness, CPK abnormalities. 77% mtDNA copy number in blood. | | | n/a | 41 | n/a | Tang et al, 2011; [view data] | | 25 | H932Y1
| T251I
P587L2
| Peripheral neuropathy, exercise intolerance, muscle cramps after exercise, easy fatigability, arrythmia, CPEO, abnormal EMG/NCV, ptosis, cataract, abnormal muscle histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 123% mtDNA copy number in blood. | | - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 31 | n/a | Tang et al, 2011; [view data] | | 9 | A467T2
| A143V1
| Dementia/encephalopathy, headaches/migraines, ataxia, seizures, peripheral neuropathy, exercise intolerance, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, hearing loss, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 49 | n/a | Tang et al, 2011; [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: 21
Avg age of onset in displayed cases: 42.0
Std dev in onset in displayed cases: 15.7
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