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Distal arthrogrypos...
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
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- 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
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- 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
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- 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
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- Tulinius, Mar, 1953 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden
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- 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
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(creator_code:org_t)
- Ovid Technologies (Wolters Kluwer Health), 2007
- 2007
- English.
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In: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 1526-632X .- 0028-3878. ; 68:10, s. 772-5
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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)
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