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13 patient data entries collated from reference Komulainen et al, 2010.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
295R722H
R722H
Severe dementia, sensorineural hearing impairment, diabetes mellitus, PEO, dysphagia, neuropathic pain in the legs, multiple mtDNA deletions in muscle. Clear age of onset not reported, hearing aid at 72 years. Patient A1.
-PEO
-dementia
-dysphagia
adult
8372n/a
296R722H
R722H
Moderate dementia, sensorineural hearing impairment, occasional headaches, bilateral cataract, chronic gastritis. Occasional headaches started at 30 years old. Patient A2. Younger sister of patient A1.
-headache/ migraine
-dementia
adult
7830n/a
297R722H
R722H
Mild dementia, sensorineural hearing impairment, diabetes mellitus, osteoarthritis, hypertension, coronary heart disease, areflexia due to diabetic neuropathy. She had a mild left motor hemiparesis at the age of 74 years due to a lacunar brain infarct. Patient A3. Elder sister of patient A1.
-hemiparesis
-dementia
-areflexia
adult
8674n/a
298W748S5
E1143G
R722H
mental retardation, psychiatric symptoms, mild bilateral ptosis and epilepsy, Seizures occurred at age 11 years, and focal generalized epilepsy was diagnosed.
-epilepsy
-ptosis
-retardation
childhood
2211n/a
299R722H
Diabetes mellitus, hypothyreosis, cerebral infarction, hypertension, hypercholesterolemia, learning difficulties
-no known symptoms
adult
n/an/an/a
300R722H
Transient hypertension, benign cardiac arrhythmias, fertility problems
-arrhythmia
adult
n/an/an/a
301R722H
Hypothyreosis, gestational diabetes mellitus
-no known symptoms
adult
n/an/an/a
302R722H
Mental retardation
-retardation
adult
n/an/an/a
303R722H
Premature puberty, short stature, fertility problems, gestational diabetes mellitus
-no known symptoms
juvenile
n/an/an/a
304R722H
Tinnitus, benign cardiac arrhythmias
-arrhythmia
adult
n/an/an/a
305R722H
Cataract, balance disturbances, retinal rupture, tinnitus, unilateral deafness
-no known symptoms
adult
n/an/an/a
306R722H
Coronary heart disease, delayed puberty, sensorineural hearing loss
-hearing loss
adult
n/an/an/a
307R722H
Delayed puberty, hypogonadism, transient vertigo, visual field defect
-no known symptoms
adult
n/an/an/a

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.

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