Search: WFRF:(Oldfors Anders 1951)
> (2005-2009) >
Distal arthrogrypos...
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
-
- Tajsharghi, Homa, 1968 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden
-
- Kimber, Eva, 1951 (author)
- Uppsala universitet,Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Institutionen för kvinnors och barns hälsa,Department of Neuropediatrics, Uppsala University Children's Hospital, Uppsala, Sweden
-
- Holmgren, Daniel, 1945 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Division of Pediatric Cardiology, Sahlgrenska University Hospital, Göteborg, Sweden
-
show more...
-
- Tulinius, Mar, 1953 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden
-
- Oldfors, Anders, 1951 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden
-
show less...
-
(creator_code:org_t)
- Ovid Technologies (Wolters Kluwer Health), 2007
- 2007
- English.
-
In: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 1526-632X .- 0028-3878. ; 68:10, s. 772-5
- Related links:
-
https://gup.ub.gu.se...
-
show more...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
https://urn.kb.se/re...
-
show less...
Abstract
Subject headings
Close
- Tropomyosin (TM), a sarcomeric thin-filament protein, plays an essential part in muscle contraction by regulating actin-myosin interaction. We describe two patients, a woman and her daughter, with muscle weakness and distal arthrogryposis (DA) type 2B, caused by a heterozygous missense mutation, R133W, in TPM2, the gene encoding beta-TM. Our results demonstrate the involvement of muscle dysfunction in the pathogenesis of DA and the fact that DA2B may be caused by mutations in TPM2.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Adult
- Aged
- Arginine/genetics
- Arthrogryposis/*genetics
- DNA Mutational Analysis/methods
- Exons
- Family Health
- Female
- Humans
- Muscle Weakness/*genetics
- Mutation
- Missense/*genetics
- Tropomyosin/*genetics
- Tryptophan/genetics
- MEDICINE
- Medical sciences
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
-
Neurology
(Search for host publication in LIBRIS)
To the university's database