A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

Details

Serval ID
serval:BIB_90B153667C04
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
Journal
Journal of Medical Genetics
Author(s)
Jakkula  E., Lohiniva  J., Capone  A., Bonafe  L., Marti  M., Schuster  V., Giedion  A., Eich  G., Boltshauser  E., Ala-Kokko  L., Superti-Furga  A.
ISSN
1468-6244
Publication state
Published
Issued date
12/2003
Peer-reviewed
Oui
Volume
40
Number
12
Pages
942-8
Notes
Letter Research Support, Non-U.S. Gov't --- Old month value: Dec
Keywords
Amino Acid Substitution Bone and Bones/pathology/radiography Child Collagen Type IX/genetics DNA Mutational Analysis Extracellular Matrix Proteins/*genetics Female *Genetic Predisposition to Disease Glycoproteins/*genetics Humans Magnetic Resonance Imaging Male Muscle Weakness/diagnosis/*genetics *Mutation Osteochondrodysplasias/*diagnosis/*genetics/pathology Pedigree
Pubmed
Web of science
Create date
21/01/2008 12:50
Last modification date
20/08/2019 14:54
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