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A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
- Source :
-
Journal of medical genetics [J Med Genet] 2004 Mar; Vol. 41 (3), pp. e29. - Publication Year :
- 2004
- Subjects :
- Adult
Amino Acid Sequence
Charcot-Marie-Tooth Disease complications
Charcot-Marie-Tooth Disease physiopathology
Female
Heart Diseases complications
Humans
Lamin Type A chemistry
Male
Middle Aged
Molecular Sequence Data
Muscular Dystrophies complications
Muscular Dystrophies physiopathology
Pedigree
Charcot-Marie-Tooth Disease genetics
Genes, Dominant genetics
Heart Diseases genetics
Lamin Type A genetics
Muscular Dystrophies genetics
Mutation genetics
Nails, Malformed
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 41
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Report
- Accession number :
- 14985400
- Full Text :
- https://doi.org/10.1136/jmg.2003.013383