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14 patient data entries collated from reference Hakonen et al, 2005. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 365 | W748S5
E1143G
| E1143G
W748S5
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity | | - | movement disorder (ataxia) | |
| | 37 | 16 | n/a | | 366 | W748S5
E1143G
| W748S5
E1143G
| Onset with headaches, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, restricted eye movements, ptosis, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity | | - | movement disorder (ataxia) | |
| | 51 | 28 | n/a | | 367 | W748S5
E1143G
| W748S5
E1143G
| Onset with tremor, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, eye muscle weakness, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased. | | - | movement disorder (ataxia) | |
| | n/a | 5 | 35 | | 368 | E1143G
W748S5
| E1143G
W748S5
| Onset with balance disturbances, Gait and limb ataxia, Dysarthria, Dysphagia, Nystagmus, diplopia, Cognitive impairment, Muscle strength decreased, sensory neural hearing deficit, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 46 | 32 | n/a | | 369 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Obesity, sensory neural hearing deficit, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 44 | 19 | n/a | | 370 | W748S5
E1143G
| W748S5
E1143G
| Onset with balance disturbances, Gait and limb ataxia, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Psychiatric symptoms, premature menopause, Obesity, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 42 | 27 | n/a | | 371 | W748S5
E1143G
| W748S5
E1143G
| Onset with balance disturbances and neuropathy, Gait and limb ataxia, tremor, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, restricted eye movements, Psychiatric symptoms, Muscle strength decreased, Obesity, muscle cramps, amyotrophy, pes cavus, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 38 | 27 | n/a | | 372 | E1143G
W748S5
| W748S5
E1143G
| Onset with neuropathy, Gait and limb ataxia, Dysarthria, Dysphagia, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 58 | 41 | n/a | | 373 | W748S5
E1143G
| W748S5
E1143G
| Onset with neuropathy, Gait and limb ataxia, tremor, Dysarthria, Nystagmus, Psychiatric symptoms, Muscle strength decreased, amyotrophy, pes cavus, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 51 | 36 | n/a | | 374 | W748S5
E1143G
| W748S5
E1143G
| Onset with balance disturbances and neuropathy, Gait and limb ataxia, Dysarthria, restricted eye movements, ptosis, Cognitive impairment, Obesity, cramps, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 44 | 38 | n/a | | 375 | E1143G
W748S5
| E1143G
W748S5
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, facial Involuntary movements, Dysarthria, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, cramps | | - | movement disorder (ataxia) | |
| | 45 | 17 | n/a | | 376 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, Dysarthria, other eye-movement abnormalities, Nystagmus, Cognitive impairment, Psychiatric symptoms, cramps, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 45 | 23 | n/a | | 377 | W748S5
E1143G
| W748S5
E1143G
| Onset with balance disturbances and neuropathy, Gait and limb ataxia, Myoclonus, tremor, Dysarthria, restricted eye movements, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 51 | 38 | n/a | | 378 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Dysarthria, Nystagmus, diplopia, Psychiatric symptoms, Obesity, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 55 | 24 | n/a |
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.
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