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18 patient data entries in database for clusters P587L and 1. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 49 | R853Q1
| T251I
P587L2
| Developmental delay, dementia, lactic acidosis, microcephaly, FTT, hearing loss, abnormal MRI. | | | n/a | 0.2 | n/a | Wong et al, 2008; [view data] | | 639 | G848S1
| T251I
P587L2
| Alpers | | | 0.5 | n/a | n/a | Wong et al, 2008; [view data] | | 284 | K1191R1
| T251I
P587L2
| Presented with feeding difficulties and hypotonia, At 4.5 months of age the patient contracted an influenza A infection. Concurrently she experienced hepatomegaly associated with severe hypoglycemia, Abnormalities in liver synthetic function, elevations in liver hepatocellular enzymes, elevated cerebrospinal fluid (CSF) protein, severely reduced mtDNA (3%) in liver. liver failure. She showed signs of ongoing respiratory difficulty, pancreatitis, and renal tubulopathy | | | 0.166 | 0.416 | 0.458 | Lutz et al, 2009; [view data] | | 31 | E1136K1
| T251I
P587L2
| Vomiting, FTT, hypotonic, lactic acidemia, hypoglycemia, bilateral dense cataracts, hepatomegaly, jaundice, septicemia. infantile hepatocerebral mtDNA depletion. Mother with E1136K allele reported as asymptomatic. Father with T251I/P587L allele reported as asymptomatic. | | | 0.01 | n/a | 0.5 | Taanman et al, 2009; [view data] | | 29 | K1191R1
| T251I
P587L2
| Developmental delay/dementia, liver dysfunction, lactic acidosis, fatigue, pancreatitis, cyclic vomiting. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 48 | N1157S1
| T251I
P587L2
| N/A (as reported in Tang 2011 JMG) | | | n/a | 9 | n/a | Tang et al, 2011; [view data] | | 421 | D1184N1
| P587L2
T251I
| Peripheral neuropathy, PEO, ataxia, epilepsy, fatty liver | | - | movement disorder (ataxia) | |
| | 9 | n/a | 33 | Amiot et al, 2009; [view data] | | 422 | D1184N1
| T251I
P587L2
| Peripheral neuropathy, PEO, fatty liver | | | 9 | n/a | 30 | Amiot et al, 2009; [view data] | | 24 | N864S1
| P587L2
T251I
| MNGIE-like, presented with GI symptoms, ptosis, neuropathy, muscle weakness. | | | 15 | n/a | n/a | Van Goethem et al, 2003c; [view data] | | 28 | K1191N1
| P587L2
T251I
| Stroke/ischaemic episodes, peripheral neuropathy, CPEO, abnormal EMG/NCV, ptosis, muscle weakness, headache/migraine. 167% mtDNA copy number in blood. | | | n/a | 39 | n/a | Tang et al, 2011; [view data] | | 30 | V1106I1
| T251I
P587L2
| PEO with myopathy | | | n/a | 35 | n/a | Horvath et al, 2006; [view data] | | 27 | G848S1
| T251I
P587L2
| Ocular bulbar weakness, peripheral neuropathy, muscle weakness, CPEO, ptosis, hypothyroidism, abnormal muscle histology, abnormal muscle ultrastructure, large mitochondrial proliferation, ragged red fibers. 96% mtDNA copy number in blood. Patient II-44. | | - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 81 | n/a | Tang et al, 2011; [view data] | | 250 | G848S1
| T251I
P587L2
| PEO, severe ophthalmoplegia and ptosis, which appeared insidiously and had been present clinically since the age of 55. Muscle biopsy at age 68 revealed mitochondrial myopathy, as well as muscle inflammation with granulomas. multiple mtDNA deletions in muscle tissue. | | | 55 | 75 | n/a | Kollberg et al, 2005; [view data] | | 26 | H932Y1
| T251I
P587L2
| Peripheral neuropathy, ptosis, muscle weakness, CPK abnormalities. 77% mtDNA copy number in blood. | | | n/a | 41 | n/a | Tang et al, 2011; [view data] | | 313 | G848S1
| T251I
P587L2
| progressively droopy eyelids, double vision, gait instability, proximal arm weakness, ragged red and ragged blue (succinate dehydrogenase–positive) fibers in about 3% and 6% of all muscle fibers, bilateral ptosis, diplopia, dysarthria, myopathy involving the facial muscles, sensory ataxic polyneuropathy | | | n/a | 80 | n/a | Weiss and Saneto, 2010; [view data] | | 503 | R869Q1
| P587L2
T251I
| Pareses, ptosis, ataxia, sensory neoropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 29 | 34 | n/a | Hanisch et al, 2014; [view data] | | 604 | G848S1
| T251I
P587L2
| PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle. | | | n/a | n/a | n/a | Lamantea et al, 2002; [view data] | | 25 | H932Y1
| T251I
P587L2
| Peripheral neuropathy, exercise intolerance, muscle cramps after exercise, easy fatigability, arrythmia, CPEO, abnormal EMG/NCV, ptosis, cataract, abnormal muscle histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 123% mtDNA copy number in blood. | | - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 31 | 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: 25.6
Std dev in onset in displayed cases: 26.1
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