Search: onr:"swepub:oai:DiVA.org:oru-56434" >
Childhood onset tub...
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations
-
- Hedberg, Carola, 1969 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
-
- Niceta, Marcello (author)
- Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy
-
- Fattori, Fabiana (author)
- Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy
-
show more...
-
- Lindvall, Björn (author)
- Region Örebro län,Department of Neurology, Muscle Centre, Örebro University Hospital, Örebro, Sweden
-
- Ciolfi, Andrea (author)
- Ist Super Sanita, Rome, Italy.
-
- D'Amico, Adele (author)
- Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy
-
- Tasca, Giorgio (author)
- Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy
-
- Petrini, Stefania (author)
- Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy
-
- Tulinius, Mar, 1953 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
-
- Tartaglia, Marco (author)
- Ist Super Sanita, Rome, Italy.
-
- Oldfors, Anders, 1951 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
-
- Bertini, Enrico (author)
- Unit Neuromuscular Disorders, Mol Med Lab, Bambino Gesu Childrens Res Hosp, Rome, Italy
-
show less...
-
(creator_code:org_t)
- 2014-02-26
- 2014
- English.
-
In: Journal of Neurology. - : Springer. - 0340-5354 .- 1432-1459. ; 261:5, s. 870-876
- Related links:
-
https://urn.kb.se/re...
-
show more...
-
https://doi.org/10.1...
-
https://gup.ub.gu.se...
-
show less...
Abstract
Subject headings
Close
- We investigated three unrelated patients with tubular-aggregate myopathy and slowly progressive muscle weakness manifesting in the first years of life. All patients showed type 1 muscle fiber predominance and hypotrophy of type 2 fibers. Tubular aggregates were abundant. In all three patients mutations were identified in the gene STIM1, and the mutations were found to be de novo in all patients. In one of the patients the mutation was identified by exome sequencing. Two patients harbored the previously described mutation c.326A > G p.(His109Arg), while the third patient had a novel mutation c.343A > T p.(Ile115Phe). Taking our series together with previously published cases, the c.326A > G p.(His109Arg) seems to be a hotspot mutation that is characteristically related to early onset muscle weakness.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- Myopathy
- Tubular aggregates
- STIM1
- De novo mutation
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Hedberg, Carola, ...
-
Niceta, Marcello
-
Fattori, Fabiana
-
Lindvall, Björn
-
Ciolfi, Andrea
-
D'Amico, Adele
-
show more...
-
Tasca, Giorgio
-
Petrini, Stefani ...
-
Tulinius, Mar, 1 ...
-
Tartaglia, Marco
-
Oldfors, Anders, ...
-
Bertini, Enrico
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Neurology
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Pediatrics
- Articles in the publication
-
Journal of Neuro ...
- By the university
-
Örebro University
-
University of Gothenburg