A5058173515- Muscle Physiology and Disorders
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Myasthenia Gravis and Thymoma
- Mitochondrial Function and Pathology
- Cardiomyopathy and Myosin Studies
- Hereditary Neurological Disorders
- RNA modifications and cancer
- Pituitary Gland Disorders and Treatments
- Congenital heart defects research
- Neurological diseases and metabolism
- RNA regulation and disease
- Microtubule and mitosis dynamics
- Cancer Treatment and Pharmacology
- Cellular transport and secretion
Hospital Sant Joan de Déu Barcelona
2022-2024
Institut de Recerca Sant Joan de Déu
2022-2024
Background Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by weakness and intellectual disability. Methods A clinical histopathological characterisation 25 Roma individuals with R18 caused the homozygous TRAPPC11 c.1287+5G>A variant reported. Functional effects on mitochondrial function were investigated. Results The leads to phenotype early onset...
Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting at least 1 in 2500 individuals. CMT refers to a heterogeneous group of neuropathies from both phenotypic and genetic points view. Over last decades, there have been important advances not only identification causative genes but also understanding molecular basis for many forms CMT. In fact, date, around 100 related disease, thanks next generation sequencing techniques, they proven affect either...
Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing a phenotype-driven analysis of genomic data, that led to molecular diagnosis in child with CM. identified heterozygous variant RYR1 affected child, inherited from her asymptomatic mother. Given alignment phenotype RYR1-CM, we considered potential existence missing second trans...
ABSTRACT Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, impact of loss remains unclear. Here, we present a largely female cohort 11 individuals delays dysmorphic facial features. We found that include missense clustered catalytic domain, frameshift, stop-gain variants. demonstrate specific cause activity therefore sought to define effects decreased function. Using...
Abstract Objective Duchenne and Becker muscular dystrophies (DMD BMD) are dystrophinopathies caused by variants in DMD gene, resulting reduced or absent dystrophin. These conditions, characterized muscle weakness, also manifest central nervous system (CNS) comorbidities due to dystrophin expression the CNS. Prior studies have indicated a higher prevalence of epilepsy individuals with dystrophinopathy compared general population. Our research aimed investigate characterize associated...