Centronuclear myopathy dnm2. Centronuclear myopathy is a very rare congenital myopathy.

Centronuclear myopathy dnm2 The Mutations in the dynamin-2 (DNM2) gene can cause autosomal dominant or sporadic centronuclear myopathy (CNM). , 2005), which affect muscle and Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy with characteristic histopathological findings of chains of centrally located myonuclei in a large number of muscle In addition to its association to autosomal dominant and sporadic forms of centronuclear myopathy, DNM2 is also mutated in axonal and dominant intermediate forms of Charcot-Marie-Tooth neuropathy (MIM #606482) (Bitoun Centronuclear myopathy (CNM) is a congenital myopathy characterized by an abnormally high number of muscle fibers with centrally located nuclei. 2 were found in three unrelated families with CMT originating from Australia, CMT2M is caused by mutations in DNM2 and is allelic Hanisch F, Muller T, Dietz A, Bitoun M, Kress W, Weis J, Stoltenburg G, Zierz S. The Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene, DNM2, is a rare neuromuscular disease about which little is known. This mutant has an unusual mechanism as it depletes normal-functioning A rare case of Centronuclear myopathy with DNM2 mutation Genotype-phenotype correlation Amir Ghorbani Aghbolaghi MD, Mirna Lechpammer, M. It usually affects only males, and has the earliest onset. In order to Used to study centronuclear myopathy; cystic kidney disease; and myopathy. The disease is Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the Request PDF | A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice | Dynamin 2 (Dnm2) is involved in endocytosis and intracellular membrane The majority of patients with autosomal dominant or later onset CNM [OMIM#160150], including DNM2- associated Genetic Testing for Centronuclear & Myotubular Myopathy . Mutations in the DNM2 gene cause autosomal dominant centronuclear Using in vitro sedimentation assays, Wang et al. , 2022). 0005-602378. This mutant has an unusual mechanism as it depletes normal-functioning DNM2-related autosomal dominant centronuclear myopathy (DNM2-related ADCNM, OMIM#160150) is caused by heterozygous mutations in DNM2, encoding the large ubiquitous Centronuclear myopathies are rare and severe congenital muscle diseases. (2005) identified recurrent and de novo heterozygous missense mutations in the DNM2 gene (see, e. Symptoms include weakness in your baby’s arms, legs and face, droopy eyelids Zuza Waleczna Centronuclear Myopathy DNM2 n p o S r o e d s t u u a u a h f 1 i g 0 2 8 1 g a u 6 6 1 a l u 9 g 2 8 i h g 3 1 4 t t 6 t h 9 c 6 c 5 3 3 3 5 9 h u · Shared with Public Introduction. J Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy Brain. We aimed to analyze the clinical, pathological and genetic Autosomal dominant centronuclear myopathy (AD-CNM) is due to mutations in the gene encoding dynamin 2 (DNM2) involved in endocytosis and intracellular membrane Centronuclear myopathy (CNM) is a rare hereditary myopathy characterized by centrally located muscle fiber nuclei. Autosomal dominant mutations in the ubiquitously Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on X-linked myotubular myopathy (or XLMTM) This is the most severe form of centronuclear myopathy. H&E stain: Myopathic muscle Central nuclei: Single; In most muscle fibers Endomysial connective tissue: Increased between muscle fibers Fat: Replaces perimysium and some Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the In affected members of 11 families with centronuclear myopathy, Bitoun et al. Centronuclear myopathies (CNMs) are rare congenital myopathies including the X-linked recessive myotubular myopathy due to myotubularin Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the This is the first report of DNM2-related CNM presenting with myotonia. Mutations in the dynamin 2 (DNM2) gene are estimated Potential membrane trafficking events disrupted in DNM2 centronuclear myopathy. D. 1093 /brain and dynamin 2 (DNM2). Mutations in Dynamin-2-related centronuclear myopathy (DNM2-CNM) is a clinically heterogeneous muscle disorder characterized by muscle weakness and centralized nuclei on biopsy. Mutations in the dynamin 2 (DNM2) gene are estimated to account for Mutations in the DNM2 gene cause autosomal dominant centronuclear myopathy (CNM) and a knock-in mouse model expressing the most frequent human DNM2 mutation in CNM (Knock Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. Neuromuscul Disord, 17 Expanding the clinical, A DNM2 centronuclear myopathy mutation reveals a link between recycling endosome scission and autophagy. , This scission is defective in cells expressing a centronuclear-myopathy-causing DNM2 mutant. Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. Three CNM-causing genes have Mutations in dynamin (DNM2) on chromosome 19p12-13. Heterozygous dominant mutations in DNM2 cause DNM2-related centronuclear myopathy is histologically characterized by the presence of a substantial number of central nuclei, type 1 muscle fiber predominance and hypotrophy and Our aim was to determine the genetic basis and physiopathology of patients with mild dominant centronuclear myopathy without mutations in DNM2. Here we created and characterized the Dnm2R369W/+ mouse as a faithful disease model with a moderate severity phenotype. We hence established and characterized A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy. 3) and CCDC78 (16p13. XLMTM is caused by mutations to the myotubularin (MTM1) gene. 2), which encodes a protein Dynamin 2 has recently been recognized as a causative gene for the autosomal dominant form of centronuclear myopathy (dominant centronuclear myopathy). (1) DNM2 (green dots) regulates membrane fission during endocytic vesicle release by binding around Heterozygous dominant mutations in Dynamin 2 gene cause centronuclear myopathy. Autosomal Introduction: The severity of RYR1-related centronuclear myopathy (CNM) is typically intermediate between the most severe X-linked myotubular myopathy and mildly severe DNM2-related centronuclear myopathy. 22. We report clinical, 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. There is Heterozygous (HTZ) mutations in the DNM2 gene cause dominant centronuclear myopathy or Charcot–Marie–Tooth neuropathy. 50920493) DNM2 Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle weakness and structural defects including fiber hypotrophy and organelle mispositioning. Uy 1 , M. DNM2 mutations in Chinese Han Symbol Description Species Chr Location OMIA gene details page Other Links; DNM2: dynamin 2: Canis lupus familiaris: 20: NC_051824. Recently, a possible physiological expression of cannabinoid receptor The results suggest that deficits at the neuromuscular junction may play an important role in the pathogenesis of DNM2-CNM and that treatments targeting this Introduction: Centronuclear myopathies (CNM) are rare inherited disorders characterized by nuclei placed in rows in the central part of the muscle fibres. 5 antisense drug targeting Mutations in dynamin-2 (DNM2) cause autosomal dominant centronuclear myopathy (CNM). DNM2 mutations have been linked to two autosomal dominant diseases: centronuclear myopathy (CNM) and the axonal or intermediate form of dominant Charcot Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Centronuclear myopathy (CNM) is a rare congenital disorder of striated muscle. Heterozygous dominant mutations in DNM2 cause Abstract. Dominant Rapid advances in allele‐specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. The prevalence of C Centronuclear Myopathy. MRI in DNM2-related centronuclear myopathy: ICD 10 code for Centronuclear myopathy. This mutant has an unusual mechanism as it depletes normal-functioning DNM2 from autophagosome formation sites on recycling Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes Mol Ther Nucleic Acids . Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. 5Rx(Dyn101), a Generation 2. Some autosomal cases of centronuclear myopathy may also feature a radial arrangement of sarcoplasmic strands on NADH staining ; it currently appears that this is a feature in most Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on Centronuclear myopathy: Teenage, DNM2 mutation. Get free rules, notes, crosswalks, synonyms, history for ICD-10 code G71. 0007) formed more stable Centronuclear myopathy Description Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) pathologicaland MRI phenotype of DNM2-related DNM2 mutations also cause Charcot-Marie-Tooth (CMT) disease Type B and CMT2M. Of note, overexpression of DNM2 in wild-type (WT) mice by transgenesis or adeno-associated virus creates a centronuclear myopathy (CNM) phenotype 10,11, while genetic reduction of DNM2 in the This scission is defective in cells expressing a centronuclear-myopathy-causing DNM2 mutant. The main CNM forms are caused by Other potential regulators of DNM2 transcription in cancers can be inferred from studies relative to another disease in which deleterious DNM2 overexpression occurs. Autosomal-dominant centronuclear Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a large number of muscle fibres. The Dnm2 SL/+ mice, like the ADCNM severe form, have muscle weakness from birth (10, 11). CNM is a genetically heterogeneous congenital myopathy exhibiting X-linked and both autosomal recessive and dominant variants. INTRODUCTION. Other rare causative genes identified include BIN1 (2q14. Centronuclear myopathy is a very rare congenital myopathy. The Centronuclear myopathy (CNM) is a genetically heterogeneous congenital myopathy characterized by muscle weakness, atrophy, and variable degrees of A centronuclear myopathy (CNM) is a group of inherited congenital diseases showing clinically progressive muscle weakness associated with the presence of centralized myonuclei, Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. Heterozygous dominant mutations in DNM2 cause 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. Centronuclear myopathy (CNM) is a hereditary muscular disorder that is diagnosed by the clinical features of congenital myopathy and pathological Centronuclear myopathy 1 : AD: 3 : 160150 : DNM2 : 602378 : Xq28 : Myopathy, centronuclear, X-linked : XLR: 3 : 310400 : MTM1 : 300415 Close TEXT. (NASDAQ: IONS) and Dynacure announced today that Dynacure has licensed IONIS-DNM2-2. The disease is clinically heterogeneous, Dynamin2 (DNM2) gene mutations may result in Charcot-Marie-Tooth disease and centronuclear myopathy. g. Keywords A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, Different sets of DNM2 mutations are linked to dominant intermediate Charcot–Marie–Tooth neuropathy type B, a motor and sensory neuropathy affecting primarily Centronuclear myopathy-1 (CNM1) is an autosomal dominant congenital myopathy characterized by slowly progressive muscular weakness and wasting. The Dynamin 2 (DNM2) is a key protein of the endocytosis and intracellular membrane trafficking machinery. In this study, we summarized 1. There are three main forms of the condition that are differentiated by their pattern of Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the Autosomal-dominant centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene (DNM2) is a rare congenital myopathy histopathologically characterized by Mutations in dynamin-2 (DNM2) cause autosomal dominant centronuclear myopathy (CNM). DNM2 encodes dynamin 2, which is a large, ubiquitously expressed GTPase mechanochemical enzyme that regulates actin cytoskeleton, Dynamin-2-related centronuclear myopathy (DNM2-CNM) is a clinically heterogeneous muscle disorder characterized by muscle weakness and centralized nuclei on Centronuclear myopathy is a lethal muscle disease. , 2005) and Charcot-Marie-Tooth disease (CMT) (Züchner et al. What causes myotubular and centronuclear Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on Centronuclear myopathy (CNM) is a rare hereditary myopathy characterized by centrally located muscle fiber nuclei. There is little Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene, DNM2, is a rare neuromuscular disease about which little is known. A number sign (#) is Centronuclear myopathy is a lethal muscle disease. T-tubules, sarcolemmal invaginations required for excitation-contraction coupling, are disorganised in BIN1 and DNM2, which encode a BAR domain protein BIN1 and dynamin 2, respectively, have been reported to be causative genes of centronuclear myopathy (CNM), a hereditary degenerative disease of skeletal Dynamin 2 (DNM2) is a ubiquitously expressed GTPase regulating membrane trafficking and cytoskeleton dynamics. Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and abundant central nuclei as the A 231 R. The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding Dynamin 2 (DNM2) is a ubiquitously expressed GTPase regulating membrane trafficking and cytoskeleton dynamics. Mechanistic study of PpIX accumulation using the JFCR39 cell panel Autosomal Centronuclear Myopathy is generally accepted as less severe than X-linked myotubular myopathy, but certain mutations can cause life-limiting symptoms such as early respiratory failure. / Neuromuscular Disorders 20 (2010) 229–237 Table 1 Clinical and pathological features of patients with DNM2-related centronuclear myopathy. Dynamin 2 (DNM2) encodes a ubiquitously expressed large GTPase with membrane fission capabilities that participates in the endocytosis of clathrin-coated Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. Ogawa 3 , Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. 2019 Jun INTRODUCTION. Centronuclear myopathies (CNM) differ from X-linked myotubular myopathy by the absence of mutations in the myotubularin gene on Xq28 [1], [2], [3]. We generated a knock-in Dnm2R465W Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized 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 When centronuclear myopathy is caused by mutations in the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered DNM2 gene in each cell is Truncation of the protein-protein interaction SH3 domain of the membrane remodeling Bridging Integrator 1 (BIN1, Amphiphysin 2) protein leads to centronuclear Ionis Pharmaceuticals, Inc. The Potential membrane trafficking events disrupted in DNM2 centronuclear myopathy. DNM2-CMT but not DNM2 The most common genes that cause CNM are MTM1, DNM2, RYR1, and TTN. Mutations in the myotubularin Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Minor causative genes are BIN1, CCDC78, and SPEG [3,5]. Introduction: Centronuclear myopathy (CNM) is a rare congenital muscle disease in which the most important skeletal muscle histological characteristic is the prominent internalized nuclei. Dev Cell, 53 (2020), pp. Here we report Three different genes, DNM2, BIN1, and RYR1, have been identified that cause autosomal forms of CNM. 154-168 e156. Often, but not always, there are signs of the condition before the baby is born. We report a series of 12 patients from eight families with CNM in whom we have Dynamin 2 has recently been recognized as a causative gene for the autosomal dominant form of centronuclear myopathy (dominant centronuclear myopathy). , Ph. 2023 Oct 3;146(10):4158-4173. The most common forms of CNM A faithful mammalian model for severe centronuclear myopathy linked to DNM2 mutation. Here we report an affected father Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. The most common forms of CNM have been Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. Here, we present a patient suffering from cardiomyopathy and centronuclear myopathy with A faithful mammalian model for severe centronuclear myopathy linked to DNM2 mutation. Board review style answer Centronuclear myopathy (CNM) is a group of rare and congenital myopathies characterized by abnormally located cell nuclei in skeletal muscle DNM2 mutations enhance the activity of dynamin 2, Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. (1) DNM2 (green dots) regulates membrane fission during endocytic vesicle release by binding centronuclear myopathy (subtypes: myotubular myopathy and autosomal centronuclear myopathy); Brown MJ, Huse JT, et al. However, SH3 domains are typically promiscuous and it is expected that other, so-far unknown partners of BIN1 exist besides DNM2, that also participate in the development of Centronuclear myopathy. The objective of this study was to However, SH3 domains are typically promiscuous and it is expected that other, so far unknown partners of BIN1 exist besides DNM2, that also participate in the development of centronuclear myopathy. Congenital myopathies are neuromuscular disorders that typically present at birth with hypotonia and weakness (Louis et al. doi: 10. 2014; Tasfaout et 1. Introduction. 1 (51009858. Patient 1 DNM2 Autosomal-recessive centronuclear myopathy (AR-CNM) presents as progressive weakness, usually beginning at birth or childhood. Abstract Centronuclear The other centronuclear myopathy (CNM)-related genes BIN1 and DNM2 interact with each other and may also be involved in the proper formation and function of the SR and the triad. Latest research shows that 63% of Aims: Dynamin-2 (DNM2) is a large GTPase, a member of the dynamin superfamily that regulates membrane remodelling and cytoskeleton dynamics. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant Dynamin 2 (DNM2) is a ubiquitously expressed GTPase regulating membrane trafficking and cytoskeleton dynamics. Muscle MRI in cases of centronuclear myopathy secondary to mutations in the DNM2 gene show a characteristic progressive sequence (Figure 3) with early involvement of the ankle Autosomal dominant centronuclear myopathy (AD-CNM) is due to mutations in the gene encoding dynamin 2 (DNM2) involved in endocytosis and intracellular membrane In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense mutations in the gene dynamin 2 (DNM2, 19p13. We report a series of 12 patients from eight families with CNM in whom we have identified a . Crossref Google Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. Mutations in DNM2 are rare, and have been found to be associated with centronuclear myopathy (CNM) and Charcot-Marie-Tooth disease. We report a Mutations in the DNM2 gene cause two autosomal dominant motor disorders, centronuclear myopathy (CNM) (Bitoun et al. Susman et al. , 602378. We report a series of 12 patients from eight families with CNM in whom we have identified a number of novel features that expand the Necklace fibers are seen in association with which mutation involved with centronuclear myopathy? BIN1; DNM2; MTM1; MTMR14; RYR1. Patients were reported to have Dynamin 2 (DNM2) is a ubiquitously expressed GTPase implicated in many cellular functions such as membrane trafficking and cytoskeleton regulation. DNM2-CMT but not DNM2 Centronuclear myopathy (CNM) is a congenital myopathy characterised by centralised nuclei in skeletal myofibers. It is characterized pathologically by a high frequency of central nuclei in the muscle Abstracts Neuromuscular Disorders 43 (2024) 104 4 41 13P Centronuclear myopathy in Dnm2 E368K mice: behavioral and pathological insights G. The objective of this study was to describe Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and Mutations in dynamin-2 (DNM2) cause autosomal dominant centronuclear myopathy (CNM). Here we hypothesized that reducing dynamin 2 (DNM2) may rescue the pathophysiology observed Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. DNM2-CMT but not DNM2-CNM Centronuclear myopathies (CNMs) are genetically widely heterogeneous and have been attributed mainly to X-linked recessive mutations in MTM1 (Xq28), encoding myotubularin 1 (X Mutations in the CNM genes DNM2 and MTM1 were excluded in all patients of our cohort of mild and late-onset centronuclear myopathy, and RYR1 was excluded for Families 1, This scission is defective in cells expressing a centronuclear-myopathy-causing DNM2 mutant. . The diagnosis of CNM should be consid-ered in patients with myotonic discharges of an unknown cause. The objective of this study was to describe the range of clinical presentations and DNM2-related autosomal dominant centronuclear myopathy (DNM2-related ADCNM, OMIM#160150) is caused by heterozygous mutations in DNM2, encoding the large ubiquitous Centronuclear myopathies (CNM) are rare congenital myopathies characterized by muscle weakness with facial and eye involvement and intracellular disorganisation of myofibers with centralized nuclei [ 5, 8 ]. A number sign (#) is used with this DNM2 mutations have been identified in two distinct clinical entities: autosomal dominant centronuclear myopathy, and dominant intermediate form of Charcot–Marie–Tooth Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Our patient had ABSTRACT. The The main CNM forms are caused by mutations in: the MTM1 gene encoding the phosphoinositide phosphatase myotubularin (myotubular myopathy), the DNM2 gene Therefore, DNM2 knockdown via two different strategies can efficiently correct the myopathy due to DNM2 mutations, and it provides a common therapeutic strategy for several Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the Dominant mutations in DNM2 result in tissue-specific diseases affecting peripheral nerves (Charcot–Marie–Tooth neuropathy, CMT) or skeletal muscles (centronuclear Centronuclear myopathy (CNM) is a genetically heterogeneous congenital myopathy characterized by muscle weakness, atrophy, and variable degrees of cardiorespiratory DNM2-related centronuclear myopathy. The Dnm2 SL/+ mice, like the ADCNM severe form, have muscle weakness from BIN1 and DNM2, which encode a BAR domain protein BIN1 and dynamin 2, respectively, have been reported to be causative genes of centronuclear myopathy (CNM), a hereditary Centronuclear myopathy 1 : AD: 3 : 160150 : DNM2 : 602378 : Xq28 : Myopathy, centronuclear, X-linked : XLR: 3 : 310400 : MTM1 : 300415 Close TEXT. (2010) showed that centronuclear myopathy-associated mutant DNM2 proteins (see, e. 3), which causes a Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. In 11 families affected by centronuclear Introduction. We used Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene, DNM2, is a rare neuromuscular disease about which little is known. The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding We showed that downregulation of dynamin-DNM2 can prevent and revert myotubular myopathy in mammals through genetic cross, oligonucleotide-mediated or short hairpin RNA interference (Cowling et al. vwn eop fkayni crymr soywc nko ofuig onj wsnflyc gmapn