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1 patient data entry in database for mutations P587L and M603L.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
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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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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Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
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