Results 1 to 10 of about 25,797 (180)

Centronuclear (myotubular) myopathy [PDF]

Orphanet Journal of Rare Diseases, 2008
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
Wallgren-Pettersson Carina, Jungbluth Heinz, Laporte Jocelyn   +2 more
doaj   +10 more sources

Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy [PDF]

eLife
Truncation of the protein-protein interaction SH3 domain of the membrane remodeling Bridging Integrator 1 (BIN1, Amphiphysin 2) protein leads to centronuclear myopathy.
Boglarka Zambo, Evelina Edelweiss, Bastien Morlet, Luc Negroni, Matyas Pajkos, Zsuzsanna Dosztanyi, Soren Ostergaard, Gilles Trave, Jocelyn Laporte, Gergo Gogl   +9 more
doaj   +3 more sources

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy [PDF]

EMBO Molecular Medicine, 2017
Rapid advances in allele‐specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles.
Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, Laura Julien, Sofia Benkhelifa‐Ziyyat, Aymen Rabai, Kamel Mamchaoui, Arnaud Ferry, Jocelyn Laporte, Pascale Guicheney, Stéphane Vassilopoulos, Marc Bitoun   +13 more
doaj   +3 more sources

Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants [PDF]

International Journal of Molecular Sciences, 2022
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 ...
Satoru Noguchi, Tetsuya Takeda, Kenshiro Fujise   +2 more
exaly   +4 more sources

Familial centronuclear myopathy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1970
The clinical and histological features of two Negro brothers with a centronuclear myopathy are described. They bring to 19 the number of cases now reported with this constellation of physical signs and pathological changes in the muscles. A review of these patients suggests the existence of several different diseases causing this picture, though ...
W G, Bradley, D L, Price, C K, Watanabe
core   +6 more sources

Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy [PDF]

Nature Communications, 2022
Dynamin 2 is a large GTPase linked to several human diseases. Here, Gómez-Oca et al. investigate the functions of muscle dynamin 2 isoforms and provide insights into their differential implication in centronuclear myopathy pathogenesis and treatment.
Raquel Gómez-Oca, Evelina Edelweiss, Sarah Djeddi, Mathias Gerbier, Xènia Massana-Muñoz, Mustapha Oulad-Abdelghani, Corinne Crucifix, Coralie Spiegelhalter, Nadia Messaddeq, Pierre Poussin-Courmontagne, Pascale Koebel, Belinda S. Cowling, Jocelyn Laporte   +12 more
doaj   +2 more sources

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2-Related Centronuclear Myopathy Mouse Model. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Anne-Cécile D, David A, Mathias V, Valentine A, Chloé P, Quentin D, Esra K, Sidney C, Emmanuelle G, Louise C, Alexandre G, Josiane C, Aja P, Maximilien B, Baptiste M, Christophe H, Schaeffer L, Olli R, Marc B, Rémi M, Damien F.   +20 more
europepmc   +2 more sources

Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy [PDF]

Muscles
Centronuclear myopathy (CNM) is a genetically heterogenous congenital myopathy traditionally classified as a membrane remodeling disorder. Emerging evidence reveals that centronuclear myopathy mutations converge upon common cellular dysfunction extending
Bana Abolibdeh, Charles H. Williams
doaj   +2 more sources

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review [PDF]

BMC Pediatrics, 2021
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 have ...
Gang Zhang, Min Xu, Tingting Huang, Wenxin Lin, Jinglin Chen, Wangyang Chen, Xingzhi Chang   +6 more
doaj   +2 more sources

A Possible Case of Centronuclear Myopathy: A Case Report [PDF]

Medicina, 2023
Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or
Narjara Castillo-Ferrán, Juan Mario Junco-Rodriguez, Zurina Lestayo-O’Farrill, María de los Angeles Robinson-Agramonte, Zoilo Camejo-León, Héctor Jesús Gómez-Suárez, Mercedes Salinas-Olivares, Evelyn Antiguas-Valdez, Elizabeth Falcón-Lamazares, Dario Siniscalco   +9 more
doaj   +2 more sources