Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy [PDF]
Disease Models & Mechanisms, 2022 Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation–contraction coupling (ECC).
Karla G. Espinosa +7 more
doaj +2 more sources
DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy [PDF]
Molecular Therapy: Nucleic Acids, 2023 Dynamin 2 (DNM2) is a ubiquitously expressed GTPase regulating membrane trafficking and cytoskeleton dynamics. Heterozygous dominant mutations in DNM2 cause centronuclear myopathy (CNM), associated with muscle weakness and atrophy and histopathological ...
Juliana de Carvalho Neves +3 more
doaj +2 more sources
Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin [PDF]
JCI Insight, 2020 Classical dynamins are large GTPases regulating membrane and cytoskeleton dynamics, and they are linked to different pathological conditions ranging from neuromuscular diseases to encephalopathy and cancer.
Xènia Massana Muñoz +7 more
doaj +2 more sources
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. [PDF]
PLoS Genetics, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
Johann Böhm +12 more
doaj +3 more sources
A dog model for centronuclear myopathy carrying the most common DNM2 mutation [PDF]
Disease Models & Mechanisms, 2022 Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the myofibres, including nuclear centralization and mitochondrial mispositioning.
Johann Böhm +7 more
doaj +2 more sources
A novel DNM2 variant associated with centronuclear myopathy: a case report [PDF]
Frontiers in GeneticsDNM2 encodes the dynamin-2 protein, a GTPase involved in clathrin-mediated endocytosis and other membrane trafficking pathways. The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin ...
Martina Rimoldi +12 more
doaj +2 more sources
Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report [PDF]
Clinical Case Reports, 2021 Next‐generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult.
Sheng Huang +4 more
doaj +2 more sources
Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort [PDF]
Neuromuscular Disorders, 2013 Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with ...
Chiara Fiorillo +2 more
exaly +2 more sources
A rare case of centronuclear myopathy with DNM2 mutation: genotype–phenotype correlation [PDF]
Autopsy and Case Reports, 2017 Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant ...
Amir Ghorbani Aghbolaghi +1 more
doaj +2 more sources
Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes [PDF]
Molecular Therapy: Nucleic Acids, 2019 Genome editing with the CRISPR/Cas9 technology has emerged recently as a potential strategy for therapy in genetic diseases. For dominant mutations linked to gain-of-function effects, allele-specific correction may be the most suitable approach.
Aymen Rabai +6 more
doaj +2 more sources