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18 patient data entries in database for clusters 1 and 3. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 199 | R1096C3
| T914P1
| reported as Alpers, onset at <1 year, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 7% mtDNA copy number in liver, 23% mtDNA copy number in muscle | | - | movement disorder (ataxia) | |
| | 1 | n/a | n/a | Ashley et al, 2008; [view data] | | 448 | G888D1
| L304R3
| Alpers, psychomotor retardation, epileptic encephalopathy, progressive cerebral atrophy and altered liver enzymes, mtDNA depletion. Patient 9. Age of onset information obtained from corresponding author via email. | | | 1 | n/a | 1.33 | Navarro-Sastre et al, 2012; [view data] | | 235 | T851A1
| H277L3
| Onset at 6 months of age, epilepsy, hepatopathy. 4% mtDNA copy number in liver, 32% mtDNA copy number in muscle. | | | 0.5 | n/a | n/a | Ashley et al, 2008; [view data] | | 221 | D1184N1
| S1095R3
| Failure to thrive, feeding problems, intestinal pseudo-obstruction, congenital deafness, demyelinating sensomotor neurpathy, impaired liver function, death at age 3. | | - | demyelinating neuropathy | |
| | n/a | n/a | 3 | Blok et al, 2009; [view data] | | 211 | C1077G3
| A957V1
| Developmental delay, hypotonia, dementia/encephalopathy, seizures, myoclonic seizures, elevated transaminases, FTT, abnormal EEG. 81% mtDNA copy number in muscle, 27% mtDNA copy number in blood. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 184 | P1073L3
| G848S1
| Hypotonia, FTT, gastro-oesophaeal reflux. 36% mtDNA copy number in muscle, 62% mtDNA copy number in blood. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 183 | P1073L3
| G848S1
| pschomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis. | | | 0.4 | n/a | 0.9 | Kurt et al, 2010; [view data] | | 182 | R1096C3
| G848S1
| Developmental delay, hypotonia, dementia/encephalopathy, exercise intolerance, muscle weakness, easy fatigability, ptosis, GI reflux, delayed gastric emptying, cyclic vomiting, hepatic failure, elevated transaminases, lactic acidosis, short statue, FTT. 53% mtDNA copy number in blood. | | - | delayed gastric emptying | |
| | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 180 | D1184N1
| R807P3
| Growth retardation, hypotonia, RC deficiency in muscle, hepatic failure. Onset 5 months of age, death at 11 months of age. 3% mtDNA copy number in muscle, 25 mtDNA copy number in liver. | | | 0.5 | n/a | 1 | Sarzi et al, 2007; [view data] | | 186 | R1047W3
| T851A1
| Juvenile Alpers, migraines at 12 years, ataxia, peripheral neuropathy, seizures, VPA-induced hepatopathy. | | - | movement disorder (ataxia) | |
| | 12 | n/a | 17 | Wiltshire et al, 2008; [view data] | | 195 | R1081Q3
| A862T1
| Onset at 2.5 years with epilepsy, diagnosed as Alpers. Complex IV 33%. showed psychomotor regression around age 2.5 years, and developed repetitive generalized tonic–clonic seizures. Myoclonic jerks. | | | 3 | 7 | n/a | Ferreira et al, 2011; [view data] | | 10 | L304R3
| A143V1
| Cerebral cavernous malformation, teen onset CPEO. 110% mtDNA copy number in blood. | | | n/a | 22 | n/a | Tang et al, 2011; [view data] | | 202 | G1051R3
| H932Y1
| PEO, erectile dysfunction, progressive hearing loss, dysarthria, ataxic gait, Romberg sign, severe peripheral axonal sensorimotor polyneuropathy. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 18 | 35 | n/a | Mancuso et al, 2004a; [view data] | | 194 | R1047W3
| A862T1
| PEO with ataxia, SCA-like phenotype in siblings, multiple deletions in muscle mtDNA detected via LPCR. 3% COX deficient fibers. | | - | movement disorder (ataxia) | |
| | 61 | n/a | n/a | Stewart et al, 2009; [view data] | | 331 | R943C1
| H277L3
| left dominant hemi-parkinsonian features, bradykinesia, gait disturbance, resting tremor and postural instability, chronic progressive external ophthalomoplegia among mitochondrial myopathies | | - | movement disorder (ataxia) | |
| | 50 | 78 | n/a | Sato et al, 2011; [view data] | | 357 | R1047W3
| A862T1
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, ataxia, dysarthria, Axonal sensory neuropathy /neuronopathy, Distal and proximal neurogenic change. | | - | movement disorder (ataxia) | |
| | 22 | 61 | n/a | Lax et al, 2012a; [view data] | | 446 | H277L3
| A862T1
| Ataxia, sensory ataxic neuropathy, with cerebellar features, visual disturbances with diplopia, dysarthria and dysphasia. Multiple mtDNA seletions, COX-negative fibers and ragged red fibers were found in autopsy. Areflexic, absent reflexes, in all limbs, distal weakness and distal sensory loss of proprioception and vibration. She became encephalopathic and febrile. | | - | movement disorder (ataxia) | |
| | 46 | 54 | 66 | McKelvie et al, 2012; [view data] | | 70 | R869Q1
| K319E3
| Headaches/migraines, ataxia, peripheral neuropathy, muscle weakness, CPEO, abnromal EMG/NCV, ptosis, CPF abnormalities, abnormal histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 114% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | abnormal muscle ultrastructure | |
| | n/a | 44 | n/a | Tang et al, 2011; [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
Avg age of onset in displayed cases: 16.1
Std dev in onset in displayed cases: 19.8
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