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52 patient data entries in database for mutations P587L,T251I.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
11T251I
P587L2
C224Y4
Alpers, trunk hypotonia, seizures at 4 months, RC deficiency in liver. 28% mtDNA copy number in liver.
-liver dysfunction
-hypotonic
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.3n/an/aSarzi et al, 2007;

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12T251I
P587L2
R227W4
PEO
-PEO
adult
48n/an/aHorvath et al, 2006;

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19T251I
P587L2
R232G4
Alpers, epilepsy and hepatopathy, onset 5 months of age.
-epilepsy
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
0.5n/an/aAshley et al, 2008;

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23T251I
P587L2
T251I
P587L2
PEO with myopathy, chronic bronchitis.
-myopathy
-PEO
-chronic bronchitis
adult
63n/an/aHorvath et al, 2006;

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24N864S1
T251I
P587L2
MNGIE-like, presented with GI symptoms, ptosis, neuropathy, muscle weakness.
-muscle weakness
-ptosis
juvenile
15n/an/aVan Goethem et al, 2003c;

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25H932Y1
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.
-peripheral neuropathy
-abnormal muscle histology
-abnormal muscle ultrastructure
-ragged red fibers
-exercise intolerance
-ptosis
-PEO
adult
n/a31n/aTang et al, 2011;

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26H932Y1
T251I
P587L2
Peripheral neuropathy, ptosis, muscle weakness, CPK abnormalities. 77% mtDNA copy number in blood.
-peripheral neuropathy
-muscle weakness
-ptosis
-CPK abnormalities
adult
n/a41n/aTang et al, 2011;

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27G848S1
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.
-peripheral neuropathy
-abnormal muscle histology
-abnormal muscle ultrastructure
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-ocular bulbar weakness
-hypothyroidism
adult
n/a81n/aTang et al, 2011;

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28K1191N1
T251I
P587L2
Stroke/ischaemic episodes, peripheral neuropathy, CPEO, abnormal EMG/NCV, ptosis, muscle weakness, headache/migraine. 167% mtDNA copy number in blood.
-peripheral neuropathy
-muscle weakness
-ptosis
-PEO
-stroke
-headache/ migraine
-ischaemic episodes
adult
n/a39n/aTang et al, 2011;

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29K1191R1
T251I
P587L2
Developmental delay/dementia, liver dysfunction, lactic acidosis, fatigue, pancreatitis, cyclic vomiting.
-lactic acidosis
-liver dysfunction
-developmental delay
-dementia
-vomiting
-cyclic vomiting
-pancreatitis
infantile
1n/an/aWong et al, 2008;

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30V1106I1
T251I
P587L2
PEO with myopathy
-myopathy
-PEO
adult
n/a35n/aHorvath et al, 2006;

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31E1136K1
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.
-lactic acidosis
-hepatocerebral
-jaundice
-failure to thrive
-hypotonic
-vomiting
-hepatomegaly
-hypoglycemia
-septicemia
infantile
0.01n/a0.5Taanman et al, 2009;

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33R232G4
T251I
P587L2
Infantile hepatocerebral, presented at 3 months as hypotonia followed by mtDNA depletion in liver, dementia, and death at 6 months by ventilatory insufficiency.
-hepatocerebral
-hypotonic
-dementia
-respiratory deficiency
infantile
0.3n/a0.5Ferrari et al, 2005;

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35W748S5
T251I
P587L2
PEO, ptosis, muscle fatigue, diplopia, a mild external ophthalmoplegia affecting horizontal, but not vertical gaze. Tendonreflexes were diminished in the lower extremities and a distal sensory defect in stocking distribution was seen.
-ptosis
-PEO
-ophthalmoplegia
-diplopia
-external ophthalmoplegia
adult
4550n/aTzoulis et al, 2009;

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36M603L2
T251I
P587L2
PEO with ptosis, mild atrial hypertrophy. Sister had PEO.
-ptosis
-PEO
-atrial hypertrophy
adult
6165n/aGonzalez-Vioque et al, 2006;

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37T251I
P587L2
T251I
P587L2
PEO with myopathy
-myopathy
-PEO
adult
6270n/aHorvath et al, 2006;

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38T251I
P587L2
T251I
P587L2
PEO with myopathy
-myopathy
-PEO
adult
n/a56n/aHorvath et al, 2006;

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39T251I
P587L2
T251I
P587L2
Mild bilateral ptosis, PEO.
-ptosis
-PEO
adult
41n/an/aStewart et al, 2009;

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40A467T2
T251I
P587L2
PEO, ptosis, proximal weakness, multiple mtDNA deletions-LPCR. 25% COX-deficient fibers
-ptosis
-PEO
-proximal weakness
adult
45n/an/aStewart et al, 2009;

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41A467T2
T251I
P587L2
Exercise intolerance, CPEO, retinitis pigmentosa, diabetes, limb girdle weakness. 2nd patient with cataract and myopathy
-exercise intolerance
-myopathy
-PEO
adult
n/a51n/aBlok et al, 2009;

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42L304R3
T251I
P587L2
PEO, myopathy, ataxia.
-movement disorder (ataxia)
-myopathy
-PEO
adult
4574n/aHorvath et al, 2006;

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43L304R3
T251I
P587L2
PEO, Neuropathy. Affect sibling.
-PEO
adult
6068n/aHorvath et al, 2006;

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44P648R5
T251I
P587L2
Ptosis, oculopharyngeal muscular dystrophy-like, pigmentary retinopathy.
-ptosis
adult
5967n/aFerreira et al, 2011;

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45R807P3
T251I
P587L2
PEO
-PEO
adult
4647n/aDi Fonzo et al, 2003;

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46R807P3
T251I
P587L2
PEO, dysphagia
-PEO
-dysphagia
adult
4552n/aDi Fonzo et al, 2003;

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47R807P3
T251I
P587L2
PEO, axonal sensorimotor polyneuropathy
-polyneuropathy
-axonal sensorimotor polyneuropathy
-PEO
adult
6071n/aDi Fonzo et al, 2003;

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48N1157S1
T251I
P587L2
N/A (as reported in Tang 2011 JMG)
-no known symptoms
childhood
n/a9n/aTang et al, 2011;

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49R853Q1
T251I
P587L2
Developmental delay, dementia, lactic acidosis, microcephaly, FTT, hearing loss, abnormal MRI.
-lactic acidosis
-failure to thrive
-developmental delay
-dementia
-microcephaly
-hearing loss
infantile
n/a0.2n/aWong et al, 2008;

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250G848S1
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.
-myopathy
-mitochondrial myopathy
-ptosis
-PEO
-ophthalmoplegia
adult
5575n/aKollberg et al, 2005;

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263R227W4
T251I
P587L2
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
48n/an/aAgostino et al, 2003;

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283T251I
P587L2
Global developmental delay, Central hypotonia, Torticollis, feeding difficulty at birth, myoclonic seizure, horizontal nystagmus, Intermittent estropia, Abnormal MRI
-hypotonic
-developmental delay
-nystagmus
infantile
0.4n/an/aBurusnukul and de los Reyes, 2009;

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284K1191R1
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
-liver failure
-hypotonic
-pancreatitis
-hepatomegaly
-hypoglycemia
-renal tubulopathy
infantile
0.1660.4160.458Lutz et al, 2009;

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313G848S1
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
-polyneuropathy
-ragged red fibers
-myopathy
-ptosis
-diplopia
-dysarthria
adult
n/a80n/aWeiss and Saneto, 2010;

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421D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, ataxia, epilepsy, fatty liver
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
childhood
9n/a33Amiot et al, 2009;

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422D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, fatty liver
-peripheral neuropathy
-PEO
childhood
9n/a30Amiot et al, 2009;

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475T251I
P587L2
Progressively blurred vision, diplopia, and longstanding bilateral ptosis (adPEO). She described occasional choking episodes after eating as well as fatigue and shortness of breath after minimal exertion. Lower limb examination revealed symmetric proximal limb weakness with reduced reflexes and flexor plantars. Tan- dem gait was hesitant. The initial differential diagnosis included Graves thyroid eye disease, a neuromuscular junction disor- der (myasthenia gravis or botulism), oculopharyngeal muscular dystrophy, Miller Fisher variant of Guillain-Barre syndrome, and progressive muscular dystrophy. Borderline myopathy. The muscle biopsy showed 13% cytochrome c ox- idase (COX)–deficient fibers, significant numbers of ragged red fibers but no excess of lipid or glycogen accumulation, and subsarcolemmal accumulation of abnormal mitochondria suggestive of a mitochondrial cytopathy. The patient presented 10 months later with an un- pleasant “jumping” sensation in her feet when at rest which was relieved by movement. Symptoms were worse at night and she also described sudden involuntary movements of her lower limbs (restless legs syndrome, RLS).
-ragged red fibers
-myopathy
-ptosis
-PEO
-diplopia
adult
5358n/aAitken et al, 2009;

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503R869Q1
P587L2
T251I
Pareses, ptosis, ataxia, sensory neoropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
-movement disorder (ataxia)
-demyelinating neuropathy
-ptosis
adult
2934n/aHanisch et al, 2014;

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508T251I
P587L2
Progressive ataxia, asymmetrical right ophthalmoplegia and encephalopathy. Seizures. Loss of extraocular movement on the right and right arm and leg spasticity and hyperreflexia. Elevated lactate level, a markedly depressed N-acetylaspartate level, and a markedly elevated choline level. Steroid-induced hyperglycemia. Progressive acute disseminated encephalomyelitis (ADEM).
-movement disorder (ataxia)
-ophthalmoplegia
-spasticity
-encephalopathy
childhood
n/a44.75Harris et al, 2010;

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530P116Q
T251I
P587L2
He presented migraine by age 7 and complained of fatigue during exercise by age 12. mild diffuse muscle hypotonia and flat feet. ptosis at 14. Brain MRI showed mild white matter hyperintensity.
-ptosis
-hypotonic
-headache/ migraine
childhood
714n/aScuderi et al, 2015;

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531P116Q
T251I
P587L2
delayed psychomotor development. At age 3, neurological examination showed muscular hypotonia, joint laxity, absent deep tendon reflexes, broadbased gait, scapular winging, accentuation of lumbar lordosis and flat feet. intellectual disability. progressive cognitive impairment. mild myopathy.
-myopathy
-hypotonic
childhood
38n/aScuderi et al, 2015;

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532T251I
P587L2
leg pain after physical activity. mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis. Borderline intellectual functioning.
-muscle weakness
-hypotonic
childhood
n/a10n/aScuderi et al, 2015;

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533T251I
P587L2
Presented deafness from childhood. migraine and fatigue. On neurological examination she had mild diffuse muscle weakness. Audiometric examination disclosed neurosensorial hypoacusia. mild anxiety with specific phobias concerning indoor environment and crowd.
-muscle weakness
-headache/ migraine
adult
2937n/aScuderi et al, 2015;

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584W748S5
E1142G
T251I
P587L2
Akinetic-rigid Parkinsons. impaired balance, freezing, and increased salivation. Constipation and muscle cramps. He had arterial hypertension and mild normocytic anemia. cytochrome c oxidase-negative muscle fibers.
-parkinson's disease
adult
4965n/aYlönen et al, 2013;

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588T251I
P587L2
T251I
P587L2
Alpers. nocturnal nausea followed by loss of consciousness without motor relinquishing. obsessive–compulsive disorder.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
juvenile
1626n/aStewart et al, 2011;

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600Nonsense
mutation:
R709X
T251I
P587L2
PEO, complicated by dysphagia, myopathy.
-myopathy
-PEO
-dysphagia
adult
n/a52n/aDel Bo et al, 2003;

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601R807P3
T251I
P587L2
PEO, complicated by dysphagia, myopathy.
-myopathy
-PEO
-dysphagia
adult
n/a71n/aDel Bo et al, 2003;

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603R309L3
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/aLamantea et al, 2002;

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604G848S1
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/aLamantea et al, 2002;

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605Frameshift:
G785fs
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/aLamantea et al, 2002;

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618A467T2
T251I
P587L2
diabetes mellitus 2, congestive heart failure, hypothyroidism, hypertension, depression with psychotic features and gastric bypass surgery. gait difficulties, cognitive impairment, ophthalmoplegia, resting tremor and peripheral neuropathy. Shooting pains and numbness in her lower extremities, occasional rectal incontinence. Presyncopal dizziness. Complicated diabetic retinopathy. sensory ataxia secondary to a sensorimotor polyneuropathy, chronic supranuclear ophthalmoplegia, and a resting tremor of her right hand. bilateral ptosis and marked temporal muscle wasting. Her sensory examination found loss of pinprick sensation, temperature and vibration bilaterally up to her hips. She had bilateral vibration loss at her fingertips. She had loss of proprioception at her toes. She had bilateral dysdiadochokinesia with significant ataxia on finger to nose testing. Arreflexic in her lower extremities. On cognitive testing she was found to have moderate dementia with significant deficits in registration and construction as well as ideomotor apraxia.
-movement disorder (ataxia)
-sensory ataxia
-peripheral neuropathy
-polyneuropathy
-axonal sensorimotor polyneuropathy
-ptosis
-ophthalmoplegia
-dementia
-hypothyroidism
-tremor
adult
5560n/aLovan et al, 2013;

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639G848S1
T251I
P587L2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.5n/an/aWong et al, 2008;

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695Nonsense
mutation:
W486X
T251I
P587L2
slowly progressive bilateral blepharoptosis, severe PEO, dysphagia, facial diparesis and exercise intolerance, presented, at the age of 60, with left-dominant postural tremor, reduced left arm swing during gait, postural instability, axonal sensory polyneuropathy, CT showed diffuse cerebral atrophy. Parkinsons.
-polyneuropathy
-exercise intolerance
-ptosis
-PEO
-parkinson's disease
-dysphagia
-tremor
adult
4666n/aMiguel et al, 2014;

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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: 52
Number of patient cases marked as outliers: 2 (cases excluded from avg: 283, 508)
Avg age of onset in displayed cases: 35.4
Std dev in onset in displayed cases: 24.3

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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