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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
- Source :
-
Human Genetics . Jun2015, Vol. 134 Issue 6, p671-673. 3p. - Publication Year :
- 2015
-
Abstract
- Charcot-Marie-Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A>C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 03406717
- Volume :
- 134
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 102499144
- Full Text :
- https://doi.org/10.1007/s00439-015-1548-3