Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
dc.contributor.author | Sikkema‐raddatz, Birgit | en_US |
dc.contributor.author | Sijmons, Rolf H. | en_US |
dc.date.accessioned | 2012-07-12T17:24:38Z | |
dc.date.available | 2013-08-01T14:04:40Z | en_US |
dc.date.issued | 2012-06 | en_US |
dc.identifier.citation | Sikkema‐raddatz, Birgit ; Sijmons, Rolf H. (2012). "Mutation spectrum in the large GTPase dynamin 2, and genotypeâ phenotype correlation in autosomal dominant centronuclear myopathy ." Human Mutation 33(6): 949-959. <http://hdl.handle.net/2027.42/92087> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/92087 | |
dc.description.abstract | Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 ( DNM2 ), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM‐related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice‐site mutation. Genotype–phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot–Marie–Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue‐specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. Hum Mutat 33:949–959, 2012. © 2012 Wiley Periodicals, Inc. | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Hereditary Motor and Sensory Neuropathy Type II | en_US |
dc.subject.other | ADCNM | en_US |
dc.subject.other | DNM2 | en_US |
dc.subject.other | Charcot–Marie–Tooth Neuropathy | en_US |
dc.subject.other | Congenital Myopathy | en_US |
dc.subject.other | Centronuclear Myopathy | en_US |
dc.subject.other | Endocytosis | en_US |
dc.subject.other | RYR1 | en_US |
dc.subject.other | BIN1 | en_US |
dc.subject.other | Myotubular Myopathy | en_US |
dc.subject.other | MTM1 | en_US |
dc.subject.other | HMSNII | en_US |
dc.subject.other | CMT2M | en_US |
dc.subject.other | DI‐CMTB | en_US |
dc.subject.other | CMTD1B | en_US |
dc.title | Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas | en_US |
dc.contributor.affiliationother | Nationwide Children's Hospital, Ohio State University, Columbus, Ohio | en_US |
dc.contributor.affiliationother | Department of Obstetrics and Gynecology, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee. | en_US |
dc.contributor.affiliationother | Genzyme Genetics, Westborough, Massachusetts. | en_US |
dc.contributor.affiliationother | Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1 rue Laurent Fries, F‐67404 Illkirch, France. | en_US |
dc.contributor.affiliationother | Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota | en_US |
dc.contributor.affiliationother | Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U964, Centre National de la Recherche Scientifique (CNRS) UMR7104, University of Strasbourg, Collège de France, Illkirch, France | en_US |
dc.contributor.affiliationother | Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France | en_US |
dc.contributor.affiliationother | Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts | en_US |
dc.contributor.affiliationother | Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France | en_US |
dc.contributor.affiliationother | Department of Neurology, Ege University School of Medicine, Izmir, Turkey | en_US |
dc.contributor.affiliationother | Human Genetics, The University of Chicago, Chicago, Illinois | en_US |
dc.contributor.affiliationother | Department of Neurology, Medical School of the University of Sao Paulo Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil | en_US |
dc.contributor.affiliationother | Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark | en_US |
dc.contributor.affiliationother | Department of Neurology, Hopital Civil, Strasbourg, France | en_US |
dc.contributor.affiliationother | The Folkhälsan Institute of Genetics, Helsinki, Finland | en_US |
dc.contributor.affiliationother | Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland | en_US |
dc.contributor.affiliationother | Laboratory of Musculoskeletal Cell Biology, Instituto Ortopedico Rizzoli, Bologna, Italy | en_US |
dc.contributor.affiliationother | Institute of Biomedicine, Sahlgrenska University Hospital, Gothenburg, Sweden | en_US |
dc.contributor.affiliationother | Department of Clinical Genetics, Odense University Hospital, Odense, Denmark | en_US |
dc.contributor.affiliationother | INSERM UMR788, University Paris 11, Hôpital du Kremlin Bicetre, Le Kremlin‐Bicetre, France | en_US |
dc.contributor.affiliationother | Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa | en_US |
dc.contributor.affiliationother | Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden | en_US |
dc.contributor.affiliationother | Department of Neurology, Federal University of São Paulo, São Paulo, Brazil | en_US |
dc.contributor.affiliationother | Service Génétique, Centre Hospitalier Regional Universitaire, Lille, France | en_US |
dc.contributor.affiliationother | Department Génétique, GH Pitié‐Salpêtrière, Paris, France | en_US |
dc.contributor.affiliationother | Service Génétique Médicale, Centre Hospitalier Universitaire Nice, Nice, France | en_US |
dc.contributor.affiliationother | Department Medical Genetics, Sydney Children's Hospital, Randwick, Australia | en_US |
dc.contributor.affiliationother | Service de Médecine Infantile III et Génétique Clinique, CHU de Nancy, Nancy, France | en_US |
dc.contributor.affiliationother | Faculté de Médecine, Université de Lorraine, Vandoeuvre‐les‐Nancy, France | en_US |
dc.contributor.affiliationother | Department of Neurology, Azienda ospedaliera Pisana, Pisa, Italy | en_US |
dc.contributor.affiliationother | Servicio de Neurologia, Hospital Donostia, San Sebastian, Spain | en_US |
dc.contributor.affiliationother | Department of Neuromuscular Investigations and Pathologies, CHU, Besancon, France | en_US |
dc.contributor.affiliationother | Service de Neurologie, CHU, Hôpital Nord, Saint Etienne, France | en_US |
dc.contributor.affiliationother | Neurologia, Hospital Universitario de Cruces, Baracaldo, Spain | en_US |
dc.contributor.affiliationother | Pediatric Neurology, Gent University Hospital, Gent, Belgium | en_US |
dc.contributor.affiliationother | Department of Neurosciences, Bambino Gesu' Children's Research Hospital, Rome, Italy | en_US |
dc.contributor.affiliationother | Hôpital Marin, Hendaye, France | en_US |
dc.contributor.affiliationother | Service Génétique, Hôpitaux de Rouen, France | en_US |
dc.contributor.affiliationother | Laboratoire de Génétique Moléculaire, INSERM U827, Montpellier, France | en_US |
dc.contributor.affiliationother | Genetics Programme, North York General Hospital, Toronto, Canada | en_US |
dc.contributor.affiliationother | Carver College of Medicine, University of Iowa, Iowa City, Iowa | en_US |
dc.contributor.affiliationother | Department of Health, Behavior and Society, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland | en_US |
dc.contributor.affiliationother | Department of Neurology and Neurosurgery, The John Hopkins School of Medicine, Baltimore, Maryland | en_US |
dc.contributor.affiliationother | Hennepin County Medical Center, Minneapolis, Minnesota | en_US |
dc.contributor.affiliationother | Department of Neurology, Gillette Children's Specialty Healthcare, Saint Paul, Minnesota | en_US |
dc.contributor.affiliationother | Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland, Ohio | en_US |
dc.contributor.affiliationother | Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Tufts Medical Center, Boston, Massachusetts | en_US |
dc.contributor.affiliationother | Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts | en_US |
dc.contributor.affiliationother | Departments of Neurology and Medicine, University of Washington and VA Medical Center, Seattle, Washington | en_US |
dc.contributor.affiliationother | Department of Medicine, University of Washington, Seattle, Washington | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/92087/1/22067_ftp.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/92087/2/humu_22067_sm_SuppInfo.pdf | |
dc.identifier.doi | 10.1002/humu.22067 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.identifier.citedreference | Susman RD, Quijano‐Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, and others. 2010. Expanding the clinical, pathological and MRI phenotype of DNM2‐related centronuclear myopathy. Neuromuscul Disord 20: 229 – 237. | en_US |
dc.identifier.citedreference | Shpetner HS, Vallee RB. 1989. Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules. Cell 59: 421 – 432. | en_US |
dc.identifier.citedreference | Sever S, Muhlberg AB, Schmid SL. 1999. Impairment of dynamin's GAP domain stimulates receptor‐mediated endocytosis. Nature 398: 481 – 486. | en_US |
dc.identifier.citedreference | Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, Torigian DA, Jungbluth H, Goebel HH, Bonnemann CG. 2007. MRI in DNM2‐related centronuclear myopathy: evidence for highly selective muscle involvement. Neuromuscul Disord 17: 28 – 32. | en_US |
dc.identifier.citedreference | Schafer DA, Weed SA, Binns D, Karginov AV, Parsons JT, Cooper JA. 2002. Dynamin2 and cortactin regulate actin assembly and filament organization. Curr Biol 12: 1852 – 1857. | en_US |
dc.identifier.citedreference | Romero NB. 2010. Centronuclear myopathies: a widening concept. Neuromuscul Disord 20: 223 – 228. | en_US |
dc.identifier.citedreference | Praefcke GJ, McMahon HT. 2004. The dynamin superfamily: universal membrane tubulation and fission molecules? Nat Rev Mol Cell Biol 5: 133 – 147. | en_US |
dc.identifier.citedreference | Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren‐Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J. 2007. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 39: 1134 – 1139. | en_US |
dc.identifier.citedreference | Nicot AS, Laporte J. 2008. Endosomal phosphoinositides and human diseases. Traffic 9: 1240 – 1249. | en_US |
dc.identifier.citedreference | Melberg A, Kretz C, Kalimo H, Wallgren‐Pettersson C, Toussaint A, Bohm J, Stalberg E, Laporte J. 2010. Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. Neuromuscul Disord 20: 53 – 56. | en_US |
dc.identifier.citedreference | Liu YW, Lukiyanchuk V, Schmid SL. 2011b. Common membrane trafficking defects of disease‐associated dynamin 2 mutations. Traffic 12: 1620 – 1633. | en_US |
dc.identifier.citedreference | Liu N, Bezprozvannaya S, Shelton JM, Frisard MI, Hulver MW, McMillan RP, Wu Y, Voelker KA, Grange RW, Richardson JA, Bassel‐Duby R, Olson EN. 2011a. Mice lacking microRNA 133a develop dynamin 2‐dependent centronuclear myopathy. J Clin Invest 121: 3258 – 3268. | en_US |
dc.identifier.citedreference | Liewluck T, Lovell TL, Bite AV, Engel AG. 2010. Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. Neuromuscul Disord 20: 801 – 804. | en_US |
dc.identifier.citedreference | Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. 1996. A gene mutated in X‐linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 13: 175 – 182. | en_US |
dc.identifier.citedreference | Kruchten AE, McNiven MA. 2006. Dynamin as a mover and pincher during cell migration and invasion. J Cell Sci 119: 1683 – 1690. | en_US |
dc.identifier.citedreference | Zuchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, and others. 2005. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot–Marie–Tooth disease. Nat Genet 37: 289 – 294. | en_US |
dc.identifier.citedreference | Koutsopoulos OS, Koch C, Tosch V, Bohm J, North KN, Laporte J. 2011. Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot–Marie Tooth peripheral neuropathy. PLoS One 6: e27498. | en_US |
dc.identifier.citedreference | Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Muller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, and others. 2010. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 68: 717 – 726. | en_US |
dc.identifier.citedreference | Warnock DE, Baba T, Schmid SL. 1997. Ubiquitously expressed dynamin‐II has a higher intrinsic GTPase activity and a greater propensity for self‐assembly than neuronal dynamin‐I. Mol Biol Cell 8: 2553 – 2562. | en_US |
dc.identifier.citedreference | Wang L, Barylko B, Byers C, Ross JA, Jameson DM, Albanesi JP. 2010. Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. J Biol Chem 285: 22753 – 22757. | en_US |
dc.identifier.citedreference | Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren‐Pettersson C, Laugel V, Echaniz‐Laguna A, Mandel JL, Nishino I, Laporte J. 2011. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol 121: 253 – 266. | en_US |
dc.identifier.citedreference | Tosch V, Rohde HM, Tronchere H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J. 2006. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet 15: 3098 – 3106. | en_US |
dc.identifier.citedreference | Thompson HM, Cao H, Chen J, Euteneuer U, McNiven MA. 2004. Dynamin 2 binds gamma‐tubulin and participates in centrosome cohesion. Nat Cell Biol 6: 335 – 342. | en_US |
dc.identifier.citedreference | Klein DE, Lee A, Frank DW, Marks MS, Lemmon MA. 1998. The pleckstrin homology domains of dynamin isoforms require oligomerization for high affinity phosphoinositide binding. J Biol Chem 273: 27725 – 27733. | en_US |
dc.identifier.citedreference | Beroud C, Collod‐Beroud G, Boileau C, Soussi T, Junien C. 2000. UMD (Universal mutation database): a generic software to build and analyze locus‐specific databases. Hum Mutat 15: 86 – 94. | en_US |
dc.identifier.citedreference | Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, Lubieniecki F, Taratuto AL, Laquerriere A, Claeys KG, Marty I, Fardeau M, Guicheney P, Lunardi J, Romero NB. 2011. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol 37: 271 – 284. | en_US |
dc.identifier.citedreference | Bitoun M, Bevilacqua JA, Eymard B, Prudhon B, Fardeau M, Guicheney P, Romero NB. 2009a. A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. Neurology 72: 93 – 95. | en_US |
dc.identifier.citedreference | Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro‐Coste E, Mayer M, Fardeau M, Romero NB, Guicheney P. 2007. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol 62: 666 – 670. | en_US |
dc.identifier.citedreference | Bitoun M, Durieux AC, Prudhon B, Bevilacqua JA, Herledan A, Sakanyan V, Urtizberea A, Cartier L, Romero NB, Guicheney P. 2009b. Dynamin 2 mutations associated with human diseases impair clathrin‐mediated receptor endocytosis. Hum Mutat 30: 1419 – 1427. | en_US |
dc.identifier.citedreference | Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. 2005. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 37: 1207 – 1209. | en_US |
dc.identifier.citedreference | Bitoun M, Stojkovic T, Prudhon B, Maurage CA, Latour P, Vermersch P, Guicheney P. 2008. A novel mutation in the dynamin 2 gene in a Charcot–Marie–Tooth type 2 patient: clinical and pathological findings. Neuromuscul Disord 18: 334 – 338. | en_US |
dc.identifier.citedreference | Chappie JS, Acharya S, Liu YW, Leonard M, Pucadyil TJ, Schmid SL. 2009. An intramolecular signaling element that modulates dynamin function in vitro and in vivo. Mol Biol Cell 20: 3561 – 3571. | en_US |
dc.identifier.citedreference | Claeys KG, Zuchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, and others. 2009. Phenotypic spectrum of dynamin 2 mutations in Charcot–Marie–Tooth neuropathy. Brain 132: 1741 – 1752. | en_US |
dc.identifier.citedreference | Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J. 2011. Increased expression of wild‐type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. Am J Pathol 178: 2224 – 2235. | en_US |
dc.identifier.citedreference | Dong J, Misselwitz R, Welfle H, Westermann P. 2000. Expression and purification of dynamin II domains and initial studies on structure and function. Protein Expr Purif 20: 314 – 323. | en_US |
dc.identifier.citedreference | Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Laine J, Romero NB, Guicheney P, Bitoun M. 2010. A centronuclear myopathy–dynamin 2 mutation impairs skeletal muscle structure and function in mice. Hum Mol Genet 19: 4820 – 4836. | en_US |
dc.identifier.citedreference | Echaniz‐Laguna A, Nicot AS, Carre S, Franques J, Tranchant C, Dondaine N, Biancalana V, Mandel JL, Laporte J. 2007. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Neuromuscul Disord 17: 955 – 959. | en_US |
dc.identifier.citedreference | Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N. 2007. Two novel mutations in dynamin‐2 cause axonal Charcot–Marie–Tooth disease. Neurology 69: 291 – 295. | en_US |
dc.identifier.citedreference | Faelber K, Posor Y, Gao S, Held M, Roske Y, Schulze D, Haucke V, Noe F, Daumke O. 2011. Crystal structure of nucleotide‐free dynamin. Nature 477: 556 – 560. | en_US |
dc.identifier.citedreference | Ferguson SM, Raimondi A, Paradise S, Shen H, Mesaki K, Ferguson A, Destaing O, Ko G, Takasaki J, Cremona O, O' Toole E, De Camilli P. 2009. Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin‐coated pits. Dev Cell. 17: 811 – 822. | en_US |
dc.identifier.citedreference | Fischer D, Herasse M, Bitoun M, Barragan‐Campos HM, Chiras J, Laforet P, Fardeau M, Eymard B, Guicheney P, Romero NB. 2006. Characterization of the muscle involvement in dynamin 2‐related centronuclear myopathy. Brain 129: 1463 – 1469. | en_US |
dc.identifier.citedreference | Gallardo E, Claeys KG, Nelis E, Garcia A, Canga A, Combarros O, Timmerman V, De Jonghe P, Berciano J. 2008. Magnetic resonance imaging findings of leg musculature in Charcot–Marie–Tooth disease type 2 due to dynamin 2 mutation. J Neurol 255: 986 – 992. | en_US |
dc.identifier.citedreference | Gold ES, Underhill DM, Morrissette NS, Guo J, McNiven MA, Aderem A. 1999. Dynamin 2 is required for phagocytosis in macrophages. J Exp Med 190: 1849 – 1856. | en_US |
dc.identifier.citedreference | Gu C, Yaddanapudi S, Weins A, Osborn T, Reiser J, Pollak M, Hartwig J, Sever S. 2010. Direct dynamin–actin interactions regulate the actin cytoskeleton. EMBO J 29: 3593 – 3606. | en_US |
dc.identifier.citedreference | Hanisch F, Muller T, Dietz A, Bitoun M, Kress W, Weis J, Stoltenburg G, Zierz S. 2011. Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. J Neurol 258: 1085 – 1090. | en_US |
dc.identifier.citedreference | Jeub M, Bitoun M, Guicheney P, Kappes‐Horn K, Strach K, Druschky KF, Weis J, Fischer D. 2008. Dynamin 2‐related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. Clin Neuropathol 27: 430 – 438. | en_US |
dc.identifier.citedreference | Jones SM, Howell KE, Henley JR, Cao H, McNiven MA. 1998. Role of dynamin in the formation of transport vesicles from the trans‐Golgi network. Science 279: 573 – 577. | en_US |
dc.identifier.citedreference | Jungbluth H, Cullup T, Lillis S, Zhou H, Abbs S, Sewry C, Muntoni F. 2010. Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. Neuromuscul Disord 20: 49 – 52. | en_US |
dc.identifier.citedreference | Kenniston JA, Lemmon MA. 2010. Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients. EMBO J 29: 3054 – 3067. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.