Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in LMNA

For mutations in LMNA causing other phenotypes, please consult the Leiden Muscular Dystrophy pages.

Name c.99G>T
Alias Glu33Asp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to GAT
Phenotype CMT2 + muscular dystrophy+ cardiac disease + leuconichia
htz/hmz htz
Family History D

Goizet et al., 2004
References

Genomic cDNA Protein
Observed c.99G>T
Deduced c.99G>T E33D
Region EX1 CDS
Date Added: 22-Jul-04 ID: 690

Name c.[892C>T]+[892C>T]
Alias [Arg298Cys]+[Arg298Cys]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to TGC
Phenotype CMT2
htz/hmz hmz
Family History AR

De Sandre-Giovannoli et al., 2002
Tazir et al., 2004
Bouhouche et al., 2007
References

Genomic cDNA Protein
Observed c.[892C>T]+[892C>T]
Deduced c.[892C>T]+[892C>T] R298C
Region EX5 CDS rod
Date Added: ID: 567

Name c.1711C>T
Alias Arg571Cys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to TGC
Phenotype scapuloperoneal myopathy and axonal neuropathy
htz/hmz htz
Family History D

Benedetti et al., 2005
References

Genomic cDNA Protein
Observed c.1711C>T
Deduced c.1711C>T R571C
Region EX10 CDS
Date Added: 17-Dec-07 ID: 938



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