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3 patient data entries collated from reference Pagnamenta et al, 2006.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
379Q1236H
Y955C1
Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 28 years. proximal muscle weakness, exertional dyspnoea and sensory ataxia, Peripheral neuropathy
-movement disorder (ataxia)
-sensory ataxia
-peripheral neuropathy
-muscle weakness
-ptosis
-PEO
adult
3322n/a
380Y955C1
Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 35 years, proximal muscle weakness, exertional dyspnoea and sensory ataxia, dysphagia. At the age of 57, patient III-2 was noted to have a progressive, parkinsonian-like resting tremor and reduced rapid alternating movements affecting her left arm and leg, and mild bradykinesia. ragged-red fibres
-movement disorder (ataxia)
-sensory ataxia
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-dysphagia
-tremor
adult
5722n/a
381Y955C1
Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 32 years, proximal muscle weakness, exertional dyspnoea and sensory ataxia, dysphagia.
-movement disorder (ataxia)
-sensory ataxia
-muscle weakness
-ptosis
-PEO
-dysphagia
adult
n/a22n/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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