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Embryonic myosin he...
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
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- Tajsharghi, Homa, 1968 (författare)
- 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 (författare)
- Uppsala universitet,Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Departments of Pediatrics, Institute for Clinical Sciences, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden / Department of Neuropediatrics, Uppsala University Children's Hospital, Uppsala, Sweden,Institutionen för kvinnors och barns hälsa
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- Kroksmark, Anna-Karin (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Departments of Pediatrics, Institute for Clinical Sciences, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden / Queen Silvia's Children's Hospital, Göteborg, Sweden
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- Jerre, Ragnar, 1945 (författare)
- Department of Orthopedics, Sahlgrenska University Hospital, Göteborg, Sweden
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- Tulinius, Mar, 1953 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Departments of Pediatrics, Institute for Clinical Sciences, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden / Queen Silvia's Children's Hospital, Göteborg, Sweden
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- Oldfors, Anders, 1951 (författare)
- 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)
- American Medical Association (AMA), 2008
- 2008
- Engelska.
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Ingår i: Archives of neurology. - : American Medical Association (AMA). - 1538-3687 .- 0003-9942. ; 65:8, s. 1083-90
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https://doi.org/10.1...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- BACKGROUND: Myosin is a molecular motor and the essential part of the thick filament of striated muscle. The expression of myosin heavy-chain (MyHC) isoforms is developmentally regulated. The embryonic isoform encoded from MYH3 (OMIM *160720) is expressed during fetal life. Recently, mutations in MYH3 were demonstrated to be associated with congenital joint contractures, that is, Freeman-Sheldon and Sheldon-Hall syndromes, which are both distal arthrogryposis syndromes. Mutations in other MyHC isoforms cause myopathy. It is unknown whether MYH3 mutations cause myopathy because muscle tissue has not been studied. OBJECTIVES: To determine whether novel MYH3 mutations are associated with distal arthrogryposis and to demonstrate myopathic changes in muscle biopsy specimens from 4 patients with distal arthrogryposis and MYH3 mutations. DESIGN: In a cohort of patients with distal arthrogryposis, we analyzed the entire coding sequence of MYH3. Muscle biopsy specimens were obtained, and in addition to morphologic analysis, the expression of MyHC isoforms was investigated at the protein and transcript levels. RESULTS: We identified patients from 3 families with novel MYH3 mutations. These mutations affect developmentally conserved residues that are located in different regions of the adenosine triphosphate-binding pocket of the MyHC head. The embryonic (MYH3) isoform was not detected in any of the muscle biopsy samples, indicating a normal developmental downregulation of MYH3 in these patients. However, morphologic analysis of muscle biopsy specimens from the 4 patients revealed mild and variable myopathic features and a pathologic upregulation of the fetal MyHC isoform (MYH8) in 1 patient. CONCLUSIONS: Distal arthrogryposis associated with MYH3 mutations is secondary to myosin myopathy, and postnatal muscle manifestations are variable.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- Arthrogryposis
- diagnosis
- genetics
- Base Sequence
- Child
- Preschool
- Cohort Studies
- Female
- Gene Expression Regulation
- Developmental
- physiology
- Humans
- Infant
- Infant
- Newborn
- Male
- Molecular Sequence Data
- Muscular Diseases
- congenital
- diagnosis
- genetics
- Mutation
- genetics
- Myosin Heavy Chains
- genetics
- physiology
- Prenatal Diagnosis
- methods
- Protein Isoforms
- genetics
- physiology
- Medical sciences
- MEDICINE
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Tajsharghi, Homa ...
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Kimber, Eva, 195 ...
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Kroksmark, Anna- ...
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Jerre, Ragnar, 1 ...
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Tulinius, Mar, 1 ...
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Oldfors, Anders, ...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Cell och molekyl ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Neurologi
- Artiklar i publikationen
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Archives of neur ...
- Av lärosätet
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Göteborgs universitet
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Högskolan i Skövde
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Uppsala universitet