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1 patient data entry in database for clusters G737R and 1 in age group "adult".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
669R853W1
G737R5
parkinsonism with dystonic toe and plantar flexion. Anxiety and generalized muscle weakness. Bilateral hypaesthesia of the lateral bottom of the foot and dorsal forefoot as well as bilateral distal pallhypaesthesia of the legs. Slight bilateral ptosis, slight axonal sensory polyneuropathy.
-polyneuropathy
-muscle weakness
-ptosis
-parkinson's disease
adult
2732n/aRempe et al, 2016;

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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.

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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