A5009189879- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Amyotrophic Lateral Sclerosis Research
- Neonatal Respiratory Health Research
- Congenital heart defects research
- Congenital Diaphragmatic Hernia Studies
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Connective tissue disorders research
- RNA Research and Splicing
- Cellular transport and secretion
- Calpain Protease Function and Regulation
University of Würzburg
2016-2024
Abstract Background Dystrophinopathies caused by variants in the DMD gene are a well‐studied muscle disease. The most common type of variant large deletions. Very rarely reported forms chromosomal translocations, inversions and deep intronic (DIVs) because they not detectable standard diagnostic techniques (sequencing coding sequence, copy number detection). This might be reason that some clinically histologically proven dystrophinopathy cases remain unsolved. Methods We used whole genome...
Background/Objectives: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the DMD gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is most common inherited dystrophy. Methods: We screened datasets 403 male, genetically confirmed dystrophinopathy patients and identified 13 that have not been described literature thus far. For all we provide additional data on clinical course, genotype–phenotype correlations as well histological...
Dystrophinopathies are the most common muscle diseases, especially in men. In women, on other hand, a manifestation of Duchenne muscular dystrophy is rare due to X-chromosomal inheritance. We present two young girls with severe weakness, dystrophies, and creatine kinase (CK) levels exceeding 10,000 U/L. skeletal tissues, dystrophin staining reaction showed mosaicism. The almost entirely skewed X-inactivation both cases supported possibility dystrophinopathy. Despite standard molecular...
New techniques in molecular genetic diagnostics now allow for accurate diagnosis a large proportion of patients with muscular diseases. Nevertheless, many remain unsolved, although the clinical history and/or muscle biopsy give clear indication involved genes. In cases, there is strong suspicion that cause must lie unexplored gene areas, such as deep-intronic or other non-coding regions. order to find these changes, next-generation sequencing (NGS) methods are constantly evolving, making it...
(1) Heart transplantation (HTX) improves the overall survival and functional status of end-stage heart failure patients with cardiomyopathies (CMPs). The majority CMPs have genetic causes, overlap between inherited myopathies is well documented. However, long-term outcome in skeletal muscle function possibility an undiagnosed underlying cause both a cardiac pathology remain unknown. (2) Thirty-nine were assessed using open standardized interviews on function, quality-of-life (EuroQol...
The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by combination of symptoms, skeletal features and short stature. It caused variants in genes encoding for enzymes involved the proteoglycan biosynthesis or zinc transporter.We report two brothers with similar phenotype stature, joint hypermobility, distinct craniofacial features, developmental delay severe hypermetropia indicative subtype. One also suffered from recurrent...