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8 patient data entries in database for clusters 1 and 1 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 | | | 6 | G848S1
| A143V1
| Ataxia, peripheral neuropathy, hearing loss, abnormal MRI, COX deficiency, developmental delay, seizure, delayed gastric emptying, CPK abnormalities, sister died at 2.5 years. 111% mtDNA copy number in blood. Patient II-49. | | - | movement disorder (ataxia) | |
| - | delayed gastric emptying | |
| | n/a | 38 | n/a | Tang et al, 2011; [view data] | | 76 | W918R1
| M430L1
| PEO, muscle weakness, and later onset levodopa-responsive pseudo-orthostatic tremor with Parkinsonism. | | | 30 | n/a | n/a | Invernizzi et al, 2008; [view data] | | 77 | W918R1
| M430L1
| Onset at 32 years with ptosis, PEO. | | | 32 | n/a | n/a | Ferreira et al, 2011; [view data] | | 337 | R953C1
| R953C1
| gait abnormalities and PEO, cognitive impairment and depressive and psychotic symptoms, masked face, bradykinesia, action tremor, stooped posture, rigidity, complete ophthalmoplegia, and mild proximal limb weakness, sensory polyneuropathy, myopathy, mild cardiomyopathy, Multiple mtDNA deletions in muscle | | | 20 | 35 | n/a | Gurgel-Giannetti et al, 2012; [view data] | | 406 | R964C1
| R964C1
| 34-year-old HIV-1–infected Thai woman who had been asymptomatic until the development of Pneumocystis jiroveci pneumonia. She had suffered from severe lactic acidosis after 1 year of use of d4T and lamivudine (3TC). Her peak lactate level was 67 mg/dL, and paresthesia was still present in both legs after 15 years of cessation of d4T treatment. Severe lactic acidosis induced by 1 year of treatment with d4T. | | | n/a | 34 | n/a | Yamanaka et al, 2007; [view data] | | 517 | S1104C1
| G848S1
| Ataxia, Dementia, Peripheral neuropathy, Areflexia, Myopathy, fatigue, depression, Ophthalmoplegia, Dysarthria, Osteoporosis, arPEO. | | - | movement disorder (ataxia) | |
| | 22 | 59 | n/a | Lax et al, 2012b; [view data] | | 574 | G848S1
| S1104C1
| The patient first presented at the age of 22 years with left-sided ptosis, which slowly progressed over the next 20 years to an almost complete ophthalmoplegia. He developed proximal muscle weakness at age 50 and his first Parkinsonian features at age 51. rigidity, tremor, bradykinesia and difficulty performing fine motor tasks. Proximal myopathy. sensorimotor neuropathy. Dysphagia. | | | 22 | 57 | 59 | Betts-Henderson et al, 2009; [view data] | | 609 | G923D1
| G923D1
| adPEO. | | | n/a | 32 | n/a | Lamantea et al, 2002; [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: 8
Avg age of onset in displayed cases: 28.8
Std dev in onset in displayed cases: 6.2
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