Publication: Severe phenotype with cis-acting heterozygous PMP22 mutations
Severe phenotype with cis-acting heterozygous PMP22 mutations
Date
Date
Date
Citations
Niedrist, D., Joncourt, F., Matyas, G., & Müller, A. (2009). Severe phenotype with cis-acting heterozygous PMP22 mutations. Clinical Genetics, 75, 286–289. https://doi.org/10.1111/j.1399-0004.2008.01120.x
Abstract
Abstract
Abstract
We report on a 20-year-old male with severe Charcot–Marie–Tooth(CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C.T (p.T118M). RNA-based sequence analysis confirmed the absence of nonsense-mediated decay and the presence of the mutant transcripts in Epstein–Barr virus-transformed lymphoblastoid cells of our patient. His clinical findings included early onset of polyneuropathy, loss of muscle mass with distal pareses, hammer toes, and progressive scoliosis. There was no neuropsyc
Metrics
Views
Additional indexing
Creators (Authors)
- Joncourt, F
- Matyas, G
- Müller, A
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Publisher DOI
Metrics
Views
Citations
Niedrist, D., Joncourt, F., Matyas, G., & Müller, A. (2009). Severe phenotype with cis-acting heterozygous PMP22 mutations. Clinical Genetics, 75, 286–289. https://doi.org/10.1111/j.1399-0004.2008.01120.x
