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18 patient data entries in database for cluster 3.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
449L304R3
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.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
1.75n/an/aNavarro-Sastre et al, 2012;

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642S305R3
developmental delay, dementia, lactic acidosis, alpers
-lactic acidosis
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
1n/an/aWong et al, 2008;

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680L304R3
Mitochondrial spinocerebellar ataxia epilepsy syndrome, motor axonal neuropathy
-epilepsy
-cerebellar ataxia
-movement disorder (ataxia)
-demyelinating neuropathy
childhood
n/a6n/aBindu et al, 2016;

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426S1080I3
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.
-status epilepticus
-headache/ migraine
childhood
888Rouzier et al, 2013;

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427S1080I3
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.
-hemiparesis
-epilepsia partialis
-cerebellar ataxia
-movement disorder (ataxia)
-ptosis
-headache/ migraine
-cortical blindness
childhood
88n/aRouzier et al, 2013;

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430P1073L3
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.
-epilepsy
-muscle weakness
-myopathy
-renal tubulopathy
childhood
5n/an/aRouzier et al, 2013;

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678L304R3
SANDO syndrome, Sensory motor demyelinating neuropathy
-demyelinating neuropathy
childhood
n/a10n/aBindu et al, 2016;

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220R1081Q3
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)
-cerebellar atrophy
-muscle weakness
-tremor
juvenile
1625n/aFerreira et al, 2011;

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620R1096C3
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.
-ragged red fibers
-cox-negative
-ptosis
-PEO
adult
23n/an/aAgostino et al, 2003;

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705S1080T3
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.
-peripheral neuropathy
-tremor
-hearing loss
adult
n/a55n/aSidiropoulos et al, 2013;

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679L304R3
CPEO, Sensory motor axonal neuropathy
-demyelinating neuropathy
-PEO
adult
n/a26n/aBindu et al, 2016;

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653Q968E
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.
-ragged red fibers
-ptosis
-PEO
-ophthalmoplegia
-external ophthalmoplegia
adult
3854n/aKaliszewska et al, 2015;

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651R309C3
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.
-sensory ataxia
-ragged red fibers
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-retardation
-dysarthria
adult
3154n/aKaliszewska et al, 2015;

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622W312R3
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.
-ragged red fibers
-ptosis
-PEO
adult
39n/an/aAgostino et al, 2003;

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217G1076V3
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.
-ptosis
-PEO
-retardation
adult
4151n/aFilosto et al, 2003;

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222S1095R3
Onset 46 years with PEO, muscle weakness, optic atrophy, hearing loss, ptosis.
-optic atrophy
-muscle weakness
-ptosis
-PEO
-hearing loss
adult
46n/an/aWong et al, 2008;

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219I1079L3
Onset 66 years with PEO, hearing loss, ptosis.
-ptosis
-PEO
-hearing loss
adult
66n/an/aWong et al, 2008;

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218R1047Q3
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.
-ragged red fibers
-ptosis
-PEO
adult
35n/an/aAgostino et al, 2003;

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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

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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