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18 patient data entries in database for cluster 3. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 449 | L304R3
| Y282D
| Alpers, intractable convulsions and severe epileptic status, high mtDNA depletion (8% residual mtDNA). Patient 10. Age of onset information obtained from corresponding author via email. | | | 1.75 | n/a | n/a | Navarro-Sastre et al, 2012; [view data] | | 642 | | S305R3
| developmental delay, dementia, lactic acidosis, alpers | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 680 | | L304R3
| Mitochondrial spinocerebellar ataxia epilepsy syndrome, motor axonal neuropathy | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | n/a | 6 | n/a | Bindu et al, 2016; [view data] | | 426 | S1080I3
| L79F
| Polyendocrinopathy with adrenocortical insufficiency and hypothyroidy, refractory generalized status epilepticus, cerebral white matter lesions. This young girl had suffered from migraines and lack of coordination since early childhood. At 7 years of age, she developed a multiendocrine disease with adrenocortical insufficiency and hypothyroidy. At 8 years of age, she developed a refractory status epilepticus followed by coma. Brain magnetic resonance imaging (MRI) showed white matter involvement. Healthy parents were both heterozygous carriers. | | | 8 | 8 | 8 | Rouzier et al, 2013; [view data] | | 427 | S1080I3
| L79F
| R-EPC (refractory epilepsia partialis continua), cerebellar ataxia, ptosis, symmetrical signal abnormalities of thalami and parieto-occipital cortex. Suffered from lack of coordination since childhood. At 8 years of age, she developed left partial seizures leading to refractory EPC during an episode of asthenia and headache. No endocrine dysfunction was noticed. A few weeks later, clinical examination revealed cerebellar ataxia, slight ptosis, left hemiparesis and lateral homonymous hemianopsia. After initial improvement, she developed contralateral EPC with cortical blindness. MRI showed initially lesions of right thalamus and right parieto-occipital cortex, and then bilateral and symmetrical lesions. Healthy parents were both heterozygous carriers. | | - | movement disorder (ataxia) | |
| | 8 | 8 | n/a | Rouzier et al, 2013; [view data] | | 430 | | P1073L3
| Myopathy, myoclonic epilepsy, renal tubulopathy, muscle weakness, amyotrophy, myoclonic epilepsy and lipid accumulation. Cerebrospinal fluid and blood lactate concentrations were elevated. Muscle biopsy showed lipid myopathy with no biochemical RC deficiency and neither depletion nor deletions of mtDNA. | | | 5 | n/a | n/a | Rouzier et al, 2013; [view data] | | 678 | | L304R3
| SANDO syndrome, Sensory motor demyelinating neuropathy | | - | demyelinating neuropathy | |
| | n/a | 10 | n/a | Bindu et al, 2016; [view data] | | 220 | | R1081Q3
| Muscle weakness, unsteady gait, ataxia, stiff legs, resting tremor, diabetes mellitus. Complex I 50%, Complex IV 45%. de novo mutation. Slight cerebellar atrophy. | | - | movement disorder (ataxia) | |
| | 16 | 25 | n/a | Ferreira et al, 2011; [view data] | | 620 | | R1096C3
| PEO, bilateral ptosis, severe limitation 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. | | | 23 | n/a | n/a | Agostino et al, 2003; [view data] | | 705 | | S1080T3
| almost lifelong action tremor, peripheral neuropathy, progressive sensorineural hearing loss, and a strong family history of tremor. CT of the brain was notable for extensive intracranial calcifications. | | | n/a | 55 | n/a | Sidiropoulos et al, 2013; [view data] | | 679 | | L304R3
| CPEO, Sensory motor axonal neuropathy | | - | demyelinating neuropathy | |
| | n/a | 26 | n/a | Bindu et al, 2016; [view data] | | 653 | Q968E
| R309L3
| progressive external ophthalmoplegia (PEO) and negative family history. At the age of 38, she observed impaired eye movements and ptosis. Skeletal muscle biopsy disclosed ragged red fibres. Multiple mtDNA deletions were present in muscle tissue. | | - | external ophthalmoplegia | |
| | 38 | 54 | n/a | Kaliszewska et al, 2015; [view data] | | 651 | R309C3
| R290C
| SANDO. From the age of 31, she suffered from progressive external ophthalmoplegia, ptosis, dysarthria, weakness of upper and lower limbs and sensory ataxic neuropathy. Additionally, mental retardation was diagnosed. Nerve conduction studies indicated axonal sensory and motor neuropathy. MRI showed brain atrophy. Skeletal muscle biopsy disclosed ragged-red fibres. Analysis of mitochondrial DNA revealed multiple deletions in muscle tissue. Patient has a brother with same alleles and similar clinical history. Asymptomatic son with R309C. | | - | external ophthalmoplegia | |
| | 31 | 54 | n/a | Kaliszewska et al, 2015; [view data] | | 622 | | W312R3
| PEO, bilateral ptosis, severe limitation 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. | | | 39 | n/a | n/a | Agostino et al, 2003; [view data] | | 217 | | G1076V3
| PEO at age 41, mental retardation at age 4. Progressive bilateral ptosis. Her father and paternal grandmother had long standing historier of bilaterally impaired eye movements. Patients brother and daughter (at 7) are healthy. | | | 41 | 51 | n/a | Filosto et al, 2003; [view data] | | 222 | | S1095R3
| Onset 46 years with PEO, muscle weakness, optic atrophy, hearing loss, ptosis. | | | 46 | n/a | n/a | Wong et al, 2008; [view data] | | 219 | | I1079L3
| Onset 66 years with PEO, hearing loss, ptosis. | | | 66 | n/a | n/a | Wong et al, 2008; [view data] | | 218 | | R1047Q3
| 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. | | | 35 | n/a | n/a | Agostino et al, 2003; [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: 18
Number of patient cases marked as outliers: 4 (cases excluded from avg: 642, 680, 678, 679)
Avg age of onset in displayed cases: 29.5
Std dev in onset in displayed cases: 19.1
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