|
12 patient data entries in database for mutation G517V. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 133 | R1128H1
| G517V2
| Onset at 1 years with microcephaly, developmental delay/ dementia, and liver dysfunction. Authors reported as undiagnosed. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 134 | D1196N1
| G517V2
| Onset at 1 years with myopathy, developmental delay/ dementia, RRF, and elevated CK. Authors reported as undiagnosed. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 281 | | G517V2
| Global developmental delay, Central hypotonia, Nystagmus and eye surgery, Autistic features, Generalized seizure, Hypnic myoclonia, Intermittent hypoglycemia, Abnormal MRI | | | 0.7 | 4.5 | n/a | Burusnukul and de los Reyes, 2009; [view data] | | 282 | | G517V2
| Migraines, Complex partial seizure with secondarily generalization, mild developmental delay, muscle cramps and experienced easy fatigability, | | | 7 | n/a | n/a | Burusnukul and de los Reyes, 2009; [view data] | | 293 | | G517V2
| diagnosed with type I DM at age 2, diagnosed with adrenal insufficiency and hypothyroidism at age 10, first seizure or dystonic crisis at age 16 years, then neurologic, intensive care unit, and psychiatric admissions for dystonic crises, status epilepticus, nonconvulsive status epilepticus, encephalopathy, depression, suicidal ideation, and psychosis. Elevated lactate, chronic myopathic changes, developmental delay | | | 2 | n/a | n/a | Hopkins et al, 2010; [view data] | | 294 | | G517V2
| diagnosed with type I DM at age 5, diagnosed with adrenal insufficiency and hypothyroidism at age 11, presented to neurology at age 17 years, for 2 weeks of headache and recent onset of left facial twitching. neurologic, intensive care unit, and psychiatric admissions for dystonic crises, status epilepticus, nonconvulsive status epilepticus, encephalopathy, depression, suicidal ideation, and psychosis. Elevated lactate, developmental delay | | | 5 | n/a | n/a | Hopkins et al, 2010; [view data] | | 354 | | G517V2
| neuropathy, dysphagia/ dysarthria, slowly progressive ataxia, hearing loss, slow gastrointestinal transit times, proximal myopathy. Patient #5. | | - | movement disorder (ataxia) | |
| | n/a | 56 | n/a | Woodbridge et al, 2012; [view data] | | 424 | R722H
| G517V2
| Onset at 4 months with generalized tonic-clonic seizure, evolved to status epilepticus, treated with valproate, Progressive encephalopathy, and psychomotor development deficient by age 2, mentally retarded, ataxic and hyperkinetic. At the last follow-up visit at age 17 years, he was severely retarded, autistic, and ataxic. During 12 months of valproate treatment serum alanine aminotransferase (ALAT) increased from 29 to 71 U/L (normal < 40 U/L), and after discontinuation of the medication, ALAT values varied between 5 and 12 U/L. | | | 0.33 | 17 | n/a | Bolszak et al, 2009; [view data] | | 458 | | G517V2
| Diffuse hypotonia, hypoactive reflexes, and roving eye movements. Decreased vis- ual acuity, mild bilateral macular pigmentary changes, normal refractive indices, bilateral ptosis, diffuse cerebral atrophy, and disconjugate, nystagmoid eye movements. In addition to G517V, affected by gene CLN5 c.61C>T, p.Pro21Ser and de novo exon 3 deletion. | | | 0.1 | n/a | n/a | Staropoli et al, 2012; [view data] | | 524 | G517V2
| Y955C1
| Peripheral neuropathy, myopathy, ptosis, CPEO, COX deficiency, ragged red fibres | | | n/a | 47 | n/a | Tang et al, 2011; [view data] | | 576 | | G517V2
| PEO, late-onset ataxia, dysarthria, ptosis, pyramidal tract signs, psychiatric disorders | | - | movement disorder (ataxia) | |
| | 44 | n/a | n/a | Schicks et al, 2010; [view data] | | 577 | | G517V2
| early-onset ataxia, dysarthria, pyramidal tract signs, psychiatric disorders, Cerebellar atrophy, Extrapyramidal signs. | | - | movement disorder (ataxia) | |
| | 22 | n/a | n/a | Schicks et al, 2010; [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: 12
Avg age of onset in displayed cases: 15.5
Std dev in onset in displayed cases: 20.3
|