Novel SPEG variant cause centronuclear myopathy in China
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23054
Abstract: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since… read more here.
Keywords: cause centronuclear; speg; speg variant; centronuclear myopathy ... See more keywords
A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy.
Sign Up to like & getrecommendations! Published in 2020 at "Developmental cell"
DOI: 10.1016/j.devcel.2020.03.018
Abstract: Autophagy involves engulfment of cytoplasmic contents by double-membraned autophagosomes, which ultimately fuse with lysosomes to enable degradation of their substrates. We recently proposed that the tubular-vesicular recycling endosome membranes were a core platform on which… read more here.
Keywords: autophagosome formation; recycling endosome; centronuclear myopathy; autophagy ... See more keywords
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-04418-w
Abstract: Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a congenital myopathy characterized by progressive weakness and… read more here.
Keywords: muscle; dynamin mutations; muscle cells; centronuclear myopathy ... See more keywords
Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz249
Abstract: Dynamin 2 (DNM2) is a ubiquitously expressed GTPase implicated in many cellular functions such as membrane trafficking and cytoskeleton regulation. Dominant mutations in DNM2 result in tissue specific diseases affecting peripheral nerves (Charcot-Marie-Tooth neuropathy, CMT)… read more here.
Keywords: cnm; tooth neuropathy; charcot marie; centronuclear myopathy ... See more keywords
Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
Sign Up to like & getrecommendations! Published in 2021 at "BMC Pediatrics"
DOI: 10.1186/s12887-021-02656-6
Abstract: Background Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients… read more here.
Keywords: speg gene; case; centronuclear myopathy; gene ... See more keywords
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200027
Abstract: Background and Objectives Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene, DNM2, is a rare neuromuscular disease about which little is known. The objective of this study was to describe the range… read more here.
Keywords: pathogenic variants; centronuclear myopathy; dnm2 related; related cnm ... See more keywords
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Sign Up to like & getrecommendations! Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000005862
Abstract: Objective To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. Methods Patients diagnosed with centronuclear myopathy (CNM) at 5 major… read more here.
Keywords: roma; founder; bin1; centronuclear myopathy ... See more keywords
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23116274
Abstract: Centronuclear myopathy (CNM) is a congenital myopathy characterised by centralised nuclei in skeletal myofibers. T-tubules, sarcolemmal invaginations required for excitation-contraction coupling, are disorganised in the skeletal muscles of CNM patients. Previous studies showed that various… read more here.
Keywords: myopathy caused; dynamin bin1; centronuclear myopathy; membrane remodelling ... See more keywords
Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca2+-Induced Exocytosis in Human Myoblasts
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms231810363
Abstract: Gain-of-function mutations of dynamin-2, a mechano-GTPase that remodels membrane and actin filaments, cause centronuclear myopathy (CNM), a congenital disease that mainly affects skeletal muscle tissue. Among these mutations, the variants p.A618T and p.S619L lead to… read more here.
Keywords: centronuclear myopathy; gain function; exocytosis; human myoblasts ... See more keywords