8 Result(s)
within
Carola Hedberg Oldfors
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Article
Open AccessInclusion body myositis with early onset: a population-based study
Inclusion body myositis (IBM), an inflammatory myopathy with progressive weakness without efficient treatment, typically presents after 45 years of age and younger patients are sparsely studied.
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Article
Open AccessDominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2
Myosin heavy chain (MyHC) isoforms define the three major muscle fiber types in human extremity muscles. Slow beta/cardiac MyHC (MYH7) is expressed in type 1 muscle fibers. MyHC IIa (MYH2) and MyHC IIx (MYH1) are...
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Article
Open AccessAn AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids
Swedish type Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS-S) is a severe adult-onset leukoencephalopathy with the histopathological hallmark of neuraxonal degeneration with spheroids, described ...
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Article
Open AccessDeep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests wit...
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Article
Open AccessCardiomyopathy as presenting sign of glycogenin-1 deficiency—report of three cases and review of the literature
We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial...
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Article
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods
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Article
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness
Myosin heavy chain (MyHC) is a major structural component of the striated muscle contractile apparatus. In adult human limb skeletal muscle, there are three major MyHC isoforms, slow/beta cardiac MyHC, MyHC II...
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Article
Open AccessAnalysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region
Several reports indicate a commonly deleted chromosomal region independent from, and distal to the TP53 locus in a variety of human tumors. In a previous study, we reported a similar finding in a rat tumor model ...
