Home Query References Browse Contact

5 patient data entries in database for mutations L304R and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
59A467T2
L304R3
myopathy, PEO, dysarthria.
-myopathy
-PEO
-dysarthria
juvenile
16n/a37Van Goethem et al, 2003a;

[view data]

60A467T2
L304R3
sensory ataxic neuropathy, PEO, dysarthria.
-sensory ataxia
-PEO
-dysarthria
adult
25n/an/aVan Goethem et al, 2003a;

[view data]

569L304R3
A467T2
psychiatric symptoms, ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, areflexia.
-muscle weakness
-ptosis
-PEO
-dysphagia
-areflexia
juvenile
1628n/aVan Goethem et al, 2001;

[view data]

570L304R3
A467T2
ocular symptoms, psychiatric symptoms, ptosis, opthalmoplegia, muscle weakness, distal sensory neuropathy, areflexia, pes cavus.
-muscle weakness
-ptosis
-PEO
-areflexia
adult
2538n/aVan Goethem et al, 2001;

[view data]

571L304R3
A467T2
ocular symptoms, ptosis, opthalmoplegia, dysphagia, muscle weakness, areflexia, retinopathy.
-muscle weakness
-ptosis
-PEO
-dysphagia
-areflexia
adult
2434n/aVan Goethem et al, 2001;

[view data]

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: 5
Avg age of onset in displayed cases: 21.2
Std dev in onset in displayed cases: 4.3

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
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: