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14 patient data entries collated from reference Van Goethem et al, 2001. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 560 | | Y955C1
| Ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Loss of weight, Elevated blood CK, Myogenic EMG, Distal sensory neuropathy, areflexia, Psychatric symptoms. | | | 60 | 25 | n/a | | 561 | | Y955C1
| Ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Elevated blood CK, Myogenic EMG, ocular symptoms, areflexia. | | | 55 | 35 | n/a | | 562 | | Y955C1
| Psychiatric symptoms, ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Elevated blood CK, Myogenic EMG, areflexia, distal sensory neuropathy, hearing loss. | | | 48 | 30 | n/a | | 563 | | Y955C1
| Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia. | | | 53 | 35 | n/a | | 564 | | Y955C1
| Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia. | | | 52 | 30 | n/a | | 565 | | Y955C1
| Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia. | | | 39 | 39 | n/a | | 566 | | Y955C1
| Ocular symptoms, ptosis, areflexia. | | | 33 | 33 | n/a | | 567 | | Y955C1
| Ocular symptoms, ptosis, dysphonia, distal sensoral neuropathy, areflexia, pes cavus. | | | 32 | 32 | n/a | | 568 | | Y955C1
| Neuropathic symptoms, psychiatric symptoms, distal sensoral neuropathy, areflexia, pes cavus. | | | 29 | 28 | n/a | | 569 | L304R3
| A467T2
| psychiatric symptoms, ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, areflexia. | | | 28 | 16 | n/a | | 570 | L304R3
| A467T2
| ocular symptoms, psychiatric symptoms, ptosis, opthalmoplegia, muscle weakness, distal sensory neuropathy, areflexia, pes cavus. | | | 38 | 25 | n/a | | 571 | L304R3
| A467T2
| ocular symptoms, ptosis, opthalmoplegia, dysphagia, muscle weakness, areflexia, retinopathy. | | | 34 | 24 | n/a | | 572 | R3P
| A467T2
| ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, distal sensory neuropathy, areflexia. | | | 61 | 20 | n/a | | 573 | R3P
| A467T2
| ptosis, opthalmoplegia, dysphonia, dysphagia, distal sensory neuropathy, areflexia. | | | 58 | 30 | 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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