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40 patient data entries in database for mutation Y955C. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 208 | | Y955C1
| Onset 0.1 years with dementia, liver dysfunction, lactic acidosis, hearing loss, failure to thrive, generalized ETC complex deficiency. | | | 0.1 | n/a | n/a | Wong et al, 2008; [view data] | | 209 | | Y955C1
| CPEO, myopathy. | | | n/a | 45 | n/a | Tang et al, 2011; [view data] | | 210 | | Y955C1
| CPEO, myopathy. Muscle biopsy showed RRF, multiple mtDNA deletions. Age of onset for three alcoholics ranged from 25-39, and age of death ranged from 54-65. | | | 25 | n/a | 54 | Van Goethem et al, 2003a; [view data] | | 239 | | Y955C1
| adPEO, multiple mtDNA deletions in muscle tissue. | | | 55 | 55 | n/a | Kollberg et al, 2005; [view data] | | 247 | | Y955C1
| adPEO, multiple mtDNA deletions in muscle tissue. | | | n/a | 53 | n/a | Kollberg et al, 2005; [view data] | | 248 | | Y955C1
| adPEO, multiple mtDNA deletions in muscle tissue. | | | n/a | 60 | n/a | Kollberg et al, 2005; [view data] | | 249 | | Y955C1
| adPEO, multiple mtDNA deletions in muscle tissue. | | | n/a | 60 | n/a | Kollberg et al, 2005; [view data] | | 379 | Q1236H
| Y955C1
| Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 28 years. proximal muscle weakness, exertional dyspnoea and sensory ataxia, Peripheral neuropathy | | - | movement disorder (ataxia) | |
| | 22 | 33 | n/a | Pagnamenta et al, 2006; [view data] | | 380 | | Y955C1
| Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 35 years, proximal muscle weakness, exertional dyspnoea and sensory ataxia, dysphagia. At the age of 57, patient III-2 was noted to have a progressive, parkinsonian-like resting tremor and reduced rapid alternating movements affecting her left arm and leg, and mild bradykinesia. ragged-red fibres | | - | movement disorder (ataxia) | |
| | 22 | 57 | n/a | Pagnamenta et al, 2006; [view data] | | 381 | | Y955C1
| Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 32 years, proximal muscle weakness, exertional dyspnoea and sensory ataxia, dysphagia. | | - | movement disorder (ataxia) | |
| | 22 | n/a | n/a | Pagnamenta et al, 2006; [view data] | | 485 | | Y955C1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, periodic depression, dementia, cataracts, Parkinsons. | | | 10 | 58 | 65 | Luoma et al, 2004; [view data] | | 486 | | Y955C1
| ptosis, weak achilles tendon reflexes | | | 33 | 38 | n/a | Luoma et al, 2004; [view data] | | 487 | | Y955C1
| Parkinsons, rigidity, bradykinesia, ptosis, PEO, muscle weakness, hypoacusia, premature menopause. | | | 30 | 67 | n/a | Luoma et al, 2004; [view data] | | 488 | | Y955C1
| Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, Cataracts, presbyacusis, ataxia, premature menopause, neuropathy. | | - | movement disorder (ataxia) | |
| | 22 | 60 | 61 | Luoma et al, 2004; [view data] | | 489 | | Y955C1
| PEO, Parkinsons, rigidity, bradykinesia, ptosis, muscle weakness, cataracts, ataxia. | | - | movement disorder (ataxia) | |
| | 35 | 60 | n/a | Luoma et al, 2004; [view data] | | 490 | | Y955C1
| PEO, Parkinsons, rigidity, resting tremor, bradykinesia, ptosis, muscle weakness, cataracts, ataxia. | | - | movement disorder (ataxia) | |
| | 25 | 58 | 60 | Luoma et al, 2004; [view data] | | 491 | | Y955C1
| PEO, Primary amenorrhea, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, muscle weakness, mental retardation, cataracts, ataxia, head tremor | | - | movement disorder (ataxia) | |
| | 23 | 64 | n/a | Luoma et al, 2004; [view data] | | 492 | | Y955C1
| PEO, premature menopause, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, cataracts, ataxia. | | - | movement disorder (ataxia) | |
| | 21 | 62 | n/a | Luoma et al, 2004; [view data] | | 493 | | Y955C1
| PEO, ptosis, muscle weakness | | | 23 | 33 | n/a | Luoma et al, 2004; [view data] | | 494 | | Y955C1
| Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, Neuropathy | | | 49 | 50 | n/a | Luoma et al, 2004; [view data] | | 495 | | Y955C1
| Parkinsons, resting tremor, ptosis, PEO, Muscle weakness, cataracts, Neuropathy | | | 30 | 74 | n/a | Luoma et al, 2004; [view data] | | 496 | | Y955C1
| Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, cataracts, Neuropathy. | | | 49 | 73 | n/a | Luoma et al, 2004; [view data] | | 497 | | Y955C1
| Ptosis, PEO, Exercise intolerance, pigmentary retinopathy, neuropathy | | | 28 | 30 | n/a | Luoma et al, 2004; [view data] | | 498 | | Y955C1
| PEO, ptosis, cataracts, rheumatoid arthritis, cardiac failure | | | 40 | n/a | 67 | Luoma et al, 2004; [view data] | | 499 | | Y955C1
| PEO, premature menupause, ptosis, muscle weakness, cataracts | | | 30 | 52 | n/a | Luoma et al, 2004; [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] | | 525 | | Y955C1
| gait instability, mild parkinsonian features, including cogwheel rigidity and bradykinesia. ragged-red fibers, decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected. PEO. | | | 65 | 69 | n/a | Mukai et al, 2013; [view data] | | 526 | | Y955C1
| rigidity with cogwheel phenomenon, bradykinesia, resting tremor and postural instability. Ragged-red fibers as well as fibers with increased subsarcolemmal succinate dehydrogenase activity and decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected. Parkinsons. PEO. | | | 60 | 73 | n/a | Mukai et al, 2013; [view data] | | 560 | | Y955C1
| Ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Loss of weight, Elevated blood CK, Myogenic EMG, Distal sensory neuropathy, areflexia, Psychatric symptoms. | | | 25 | 60 | n/a | Van Goethem et al, 2001; [view data] | | 561 | | Y955C1
| Ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Elevated blood CK, Myogenic EMG, ocular symptoms, areflexia. | | | 35 | 55 | n/a | Van Goethem et al, 2001; [view data] | | 562 | | Y955C1
| Psychiatric symptoms, ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Elevated blood CK, Myogenic EMG, areflexia, distal sensory neuropathy, hearing loss. | | | 30 | 48 | n/a | Van Goethem et al, 2001; [view data] | | 563 | | Y955C1
| Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia. | | | 35 | 53 | n/a | Van Goethem et al, 2001; [view data] | | 564 | | Y955C1
| Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia. | | | 30 | 52 | n/a | Van Goethem et al, 2001; [view data] | | 565 | | Y955C1
| Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia. | | | 39 | 39 | n/a | Van Goethem et al, 2001; [view data] | | 566 | | Y955C1
| Ocular symptoms, ptosis, areflexia. | | | 33 | 33 | n/a | Van Goethem et al, 2001; [view data] | | 567 | | Y955C1
| Ocular symptoms, ptosis, dysphonia, distal sensoral neuropathy, areflexia, pes cavus. | | | 32 | 32 | n/a | Van Goethem et al, 2001; [view data] | | 568 | | Y955C1
| Neuropathic symptoms, psychiatric symptoms, distal sensoral neuropathy, areflexia, pes cavus. | | | 28 | 29 | n/a | Van Goethem et al, 2001; [view data] | | 606 | | Y955C1
| PEO. | | | n/a | 31 | n/a | Lamantea et al, 2002; [view data] | | 607 | | Y955C1
| PEO. | | | n/a | 54 | n/a | Lamantea et al, 2002; [view data] | | 667 | | Y955C1
| Parkinsonism, restless legs syndrome. Good response to levodopa and ropinirole. PEO, cerebellar ataxia, neuropathy, myopathy, sensorineural hearing loss. | | - | movement disorder (ataxia) | |
| | 40 | 63 | n/a | Martikainen et al, 2016; [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: 40
Avg age of onset in displayed cases: 34.9
Std dev in onset in displayed cases: 14.2
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