A5078824732- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- ATP Synthase and ATPases Research
- Inflammatory Myopathies and Dermatomyositis
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Nuclear Structure and Function
- Eosinophilic Disorders and Syndromes
- Parkinson's Disease and Spinal Disorders
- Connective tissue disorders research
- Muscle metabolism and nutrition
- Viral Infections and Immunology Research
- Muscle and Compartmental Disorders
- Congenital heart defects research
- Cardiovascular Effects of Exercise
- Immunodeficiency and Autoimmune Disorders
- Dermatological and Skeletal Disorders
- Genomics and Rare Diseases
University of Gothenburg
2016-2025
Sahlgrenska University Hospital
2015-2025
Centre for Life
2023
Newcastle University
2023
Clinical Research Management
2023
Johns Hopkins University
2023
University of Ferrara
2008-2015
Mayo Clinic
2008-2015
WinnMed
2008-2015
Inserm
1983-2015
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid and choline metabolism that can result from defects in two flavoproteins, electron transfer flavoprotein (ETF) or ETF: ubiquinone oxidoreductase (ETF:QO). Some patients respond to pharmacological doses riboflavin. It unknown whether these have the flavoproteins themselves formation cofactor, FAD, We report 15 11 pedigrees. All index cases presented with encephalopathy muscle weakness combination...
In this study we present incidence, point prevalence, and mortality figures of mitochondrial encephalomyopathies in a population-based children from western Sweden. Through the screening registers review medical records, identified 32 patients under 16 years age population who were diagnosed between January 1, 1984, December 31, 1998. The incidence preschool (<6 age) was 1 out 11,000. Leigh's syndrome 32,000, incidences both Alper's infantile myopathy with cytochrome C oxidase deficiency...
We have generated an animal model for mitochondrial myopathy by disrupting the gene transcription factor A (Tfam) in skeletal muscle of mouse. The knockout animals developed a with ragged-red fibers, accumulation abnormally appearing mitochondria, and progressively deteriorating respiratory chain function muscle. Enzyme histochemistry, electron micrographs, citrate synthase activity revealed substantial increase mass mice. Biochemical assays demonstrated that increased partly compensated...
Autopsy material from three patients with Rett syndrome and six control cases (frontal, temporal motor cortical areas) were studied. Pyramidal non-pyramidal neurones, 100-200 in each specimen, visualized by Lucifer Yellow microinjection. 3-D reconstructions rotations computed using the VoxelView/GT program. Various types of abnormalities dendritic architecture pyramidal neurones different cortices observed. Some cells layers II-III had a subnormal number dendrites. The normally occurring...
Storage of glycogen is essential for glucose homeostasis and energy supply during bursts activity sustained muscle work. We describe three siblings with profound heart deficiency caused by a homozygous stop mutation (R462-->ter) in the synthase gene. The oldest brother died from sudden cardiac arrest at age 10.5 years. Two years later, an 11-year-old showed fatigability, hypertrophic cardiomyopathy, abnormal rate blood pressure while exercising; 2-year-old sister had no symptoms. In...
Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset myopathy, whom also had rapidly progressive cardiomyopathy, requiring heart transplant in 4. The were homozygous compound heterozygous for missense truncating mutations RBCK1 , which encodes a ubiquitin ligase, extensive polyglucosan accumulation skeletal muscle the cases conclude that deficiency is frequent cause associated weakness Ann...
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, abnormally centralized nuclei. Autosomal dominant CNM due to mutations in the large GTPase dynamin 2 (DNM2), mechanochemical enzyme regulating cytoskeleton membrane trafficking cells. To date, 40 families CNM-related DNM2 have been described, here we report 60 additional encompassing broad genotypic phenotypic spectrum. In total, 18...
Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic familial cases linked to various chromosomal regions. The mutated gene is unknown most cases. We studied eight individuals, from three apparently unrelated families, clinical pathological features of hereditary failure. investigations included examination, muscle histopathology genetic analysis by whole exome sequencing single nucleotide polymorphism arrays. All patients had...
Abstract We investigated a family with Leber's hereditary optic neuropathy in which affected individuals were homoplasmic for the point mutation of NADH‐dehydrogenase 4 gene mitochondrial DNA, described by Wallace and colleagues 1988. The proband had bilateral atrophy, tremor, dystonia, sharply defined lesions putamen on magnetic resonance images. Optic atrophy was found another 3 13 relatives maternal side. Additional neurological signs but only patients neuropathy. morphological appearance...
We here report on a human myopathy associated with mutation in fast myosin heavy chain (MyHC) gene, and also the genetic defect hereditary inclusion body myopathy. The disorder has previously been described family an “autosomal dominant myopathy, joint contractures, ophthalmoplegia, rimmed vacuoles.” Linkage analysis radiation hybrid mapping showed that gene locus (Human Genome Map name: IBM3 ) is situated 2-Mb region of chromosome 17p13, where cluster MyHC genes located. These include...