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Hereditary myopathy...
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
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- Ohlsson, Monica (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden,Lund University, Sweden
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- Hedberg, Carola, 1969 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Brådvik, Björn (author)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Department of Clinical Sciences, Division of Neurology, Lund University, Lund, Sweden
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- Lindberg, Christopher (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology,Department of Neurology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden
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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, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Danielsson, O. (author)
- Östergötlands Läns Landsting,Linköpings universitet,Institutionen för klinisk och experimentell medicin,Hälsouniversitetet,Neurologiska kliniken
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- Melberg, Atle (author)
- Uppsala universitet,Neurologi,Department of Neuroscience, Neurology, Uppsala University, Uppsala University Hospital, Uppsala, Sweden
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- Udd, B. (author)
- Neuromuscular Centre, Tampere University and Hospital, Tampere, Finland / Department of Neurology, Vasa Central Hospital, Vasa, Finland / Folkhälsan Genetic Institute, Department of Medical Genetics, Helsinki University, Helsinki, Finland
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- Martinsson, Tommy, 1956 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Department of Clinical Genetics, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, 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, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden
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(creator_code:org_t)
- 2012-05-09
- 2012
- English.
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In: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 135:6, s. 1682-1694
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Abstract
Subject headings
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- Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic and familial cases and linked to various chromosomal regions. The mutated gene is unknown in most cases. We studied eight individuals, from three apparently unrelated families, with clinical and pathological features of hereditary myopathy with early respiratory failure. The investigations included clinical examination, muscle histopathology and genetic analysis by whole exome sequencing and single nucleotide polymorphism arrays. All patients had adult onset muscle weakness in the pelvic girdle, neck flexors, respiratory and trunk muscles, and the majority had prominent calf hypertrophy. Examination of pulmonary function showed decreased vital capacity. No signs of cardiac muscle involvement were found. Muscle histopathological features included marked muscle fibre size variation, fibre splitting, numerous internal nuclei and fatty infiltration. Frequent groups of fibres showed eosinophilic inclusions and deposits. At the ultrastructural level, there were extensive myofibrillar lesions with marked Z-disc alterations. Whole exome sequencing in four individuals from one family revealed a missense mutation, g.274375T > C; p.Cys30071Arg, in the titin gene (TTN). The mutation, which changes a highly conserved residue in the myosin binding A-band titin, was demonstrated to segregate with the disease in all three families. High density single nucleotide polymorphism arrays covering the entire genome demonstrated sharing of a 6.99 Mb haplotype, located in chromosome region 2q31 including TTN, indicating common ancestry. Our results demonstrate a novel and the first disease-causing mutation in A-band titin associated with hereditary myopathy with early respiratory failure. The typical histopathological features with prominent myofibrillar lesions and inclusions in muscle and respiratory failure early in the clinical course should be incentives for analysis of TTN mutations.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- myopathy
- respiratory failure
- exome sequencing
- titin
- mutation
- autosomal-dominant myopathy
- distal myopathy
- muscle involvement
- kinase
- domain
- gene
- expression
- deletions
- weakness
- line
- apon f
- 1989
- revue neurologique
- v145
- p460
- Neurology
- Medical sciences
- MEDICINE
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Ohlsson, Monica
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Hedberg, Carola, ...
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Brådvik, Björn
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Lindberg, Christ ...
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Tajsharghi, Homa ...
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Danielsson, O.
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Melberg, Atle
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Udd, B.
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Martinsson, Tomm ...
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Oldfors, Anders, ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Brain
- By the university
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University of Gothenburg
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Lund University
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Uppsala University
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University of Skövde
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Linköping University