61. Muscular Dystrophies http//www.ncbi.nlm.nih.gov/genome/guide/HsChrX.shtml. AdrenoleukodystrophyDuchenne Muscular_dystrophy Lowe Syndrome Norrie Disease http://freesense.free.fr/Diseases/c/390.htm

http://www.ncbi.nlm.nih.gov/genome/guide/HsChrX.shtml Adrenoleukodystrophy Duchenne Lowe Syndrome Norrie Disease Rett_syndrome See OMIM or Genes and Disease for additional examples http://www.ncbi.nlm.nih.gov/genome/guide/HsChr2.shtml for Human Chr. 2 Chromosome 2 Disease Genes Some diseases associated with chromosome 2 mutations Alstrom Syndrome Holoprosencephaly 2 Tibial Autosomal Recessive Deafness -9 Limb Girdle 2b See OMIM http://www.ncbi.nlm.nih.gov/disease/Muscle.html Muscle and bone Duchenne Ellis-van_creveld_syndrome Spinal muscular_atrophy THE SKELETON provides an anchor point against . Two diseases that originate through a defect in the muscle_cells themselves are Duchenne (DMD) and myotonic_dystrophy (DM. http://www.ncbi.nlm.nih.gov:80/entrez/journals/active_providers.html ) Elsevier Science (ES) EMBL Reptile Database (emblrep) Emery-Dreifuss Mutation Database http://www.ncbi.nlm.nih.gov/entrez/Omim/allresources.html The BTKBASE mutation registry for X-Linked agammaglobulinemia The Cystic_fibrosis Mutation Database The Emery-Dreifuss Mutation http://www.ncbi.nlm.nih.gov:80/entrez/journals/loprovlink.html

62. NMAP: The UK's Gateway To High Quality Internet Resources In Nursing, Midwifery, muscular dystrophies up. http://nmap.ac.uk/browse/mesh/detail/C0026850L0026850.html

Muscular Dystrophies [up] Related topics: other Huntington Disease Neuronal Ceroid-Lipofuscinosis Postpoliomyelitis Syndrome Rett Syndrome ... Treating scoliosis in muscular dystrophy A booklet providing information concerning scoliosis caused by muscular dystrophy, and possible treatments, aimed at the public. Topics include what muscular dystrophy and scoliosis are, treatment, and surgery. Taken from the Iowa Health Book, a part of the University of Iowa’s Virtual Hospital. Muscular Dystrophies Patient Education Handout [Publication Type] Scoliosis Last modified 28/Mar/2003 [Low Graphics]

63. Genotypic Diagnosis Of Duchenne And Becker Muscular Dystrophies - Annales De Bio Vol. 57, Issue 4, July August 1999 Genotypic diagnosis of Duchenneand Becker muscular dystrophies. Annales de Biologie Clinique. Vol. http://www.john-libbey-eurotext.fr/articles/abc/57/4/417-26/en-resum.htm

Annales de Biologie Clinique. Vol. 57, Issue 4, July - August 1999 Genotypic diagnosis of Duchenne and Becker muscular dystrophies Annales de Biologie Clinique. Vol. 57, Issue 4, July - August 1999: 417-26, Generals reviews Summary: Author(s): S. Tuffery-Giraud, S. Chambert, J. Demaille, M. Claustres Keywords: Duchenne muscular dystrophy – Protein truncation test – Mutations – Prenatal diagnosis. © John Libbey Eurotext

64. AUDREY S. PENN, M.D. NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE and Stroke. I am here to discuss with you the muscular dystrophies.I have of Health. What are muscular dystrophies? The muscular http://www.hhs.gov/asl/testify/t010227.html

STATEMENT OF AUDREY S. PENN, M.D. ACTING DIRECTOR NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE BEFORE THE SENATE APPROPRIATIONS SUBCOMMITTEE ON LABOR, HEALTH AND HUMAN SERVICES, EDUCATION AND RELATED AGENCIES FEBRUARY 27, 2001 Mr. Chairman, Ranking Member Senator Harkin, and Members of the Subcommittee, I am Dr. Audrey Penn, Acting Director of the National Institute of Neurological Disorders and Stroke. I am here to discuss with you the muscular dystrophies. I have been actively involved with this group of diseases throughout my career as a physician and scientist, working in academia, with voluntary organizations, and at the National Institutes of Health What are muscular dystrophies? The muscular dystrophies are a group of diseases which weaken the skeletal muscles that we use to move voluntarily. These disorders vary in their age of onset, in severity and in the pattern of which muscles are affected. All forms of muscular dystrophy, however, grow worse as muscles progressively degenerate. In some types of muscular dystrophy, the heart, the gastrointestinal system, endocrine glands, the skin, the eyes and other organs may be affected. All of the muscular dystrophies are genetic disorders, although the types of inheritance vary, and Duchenne muscular dystrophy, the most common and best known of the childhood muscular dystrophies, often arises from new mutations.

65. Cataplexy Muscular Dystrophy muscular dystrophies. Book, Home Page. http://www.fpnotebook.com/NEU150.htm

Home About Links Index ... Editor's Choice Paid Advertisement (click above). Please see the privacy statement Neurology Motor Assorted Pages Amyotrophic Lateral Sclerosis Cataplexy Cervical Dystonia Guillain Barre Syndrome ... Right Hemiplegia Cataplexy Book Home Page Cardiovascular Medicine Dental Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Neurology Index Autonomic Cerebellum Chorea Cranial Nerve Cognitive CSF Cardiovascular Medicine Demyelinating Disability Examination Ophthalmology Gynecology Headache Infectious Disease Laboratory General Level of Consciousness Motor Obstetrics Pediatrics Pharmacology Procedure Psychiatry Radiology Seizure Sensory Sports Medicine Surgery Tremor Page Motor Index ALS Cataplexy Dystonia Cervical Guillain Barre Myopathy Myopathy Duchenne Myopathy Myasthenia Gravis Restless Leg Syndrome Epidemiology Possibly Hereditary Pathophysiology Episodic loss of motor and posture control Precipitated by laughter or strong emotion Unknown cause Signs Momentary loss voluntary motor power including speech No loss of consciousness Search other websites for this topic Search National Library of Medicine PubMed for related articles Search Google for related images or topics Paid Advertisement (click above). Please see the

66. Beeson Program: Research Topic muscular dystrophies. The term muscular dystrophy refers to a group ofgenetic diseases marked by progressive weakness and degeneration http://www.beeson.org/research.cfm?Keywords=Muscular dystrophies

67. Hausarbeiten.de - Muscular Dystrophies Translate this page muscular dystrophies. Newsletter - informiert Sie über neue Textein Ihren Fachbereichen. Bücher zum Thema muscular dystrophies. http://www.hausarbeiten.de/faecher/hausarbeit/med/1959.html

SUCHEN EINSENDEN NEWSLETTER DIPLOMARBEITEN ... PRESSEBERICHTE bei Amazon.de Hilfe zum Archiv Muscular Dystrophies Autor: Jan Otto Kategorie: Hausarbeit Sprache: English Notiz des Autors: Muscular Dystrophy is an umbrella term used it indicate a group of progressive, genetically determined disorders of skeletal and sometimes cardiac muscles which.... Nutzerwertung: 80 von 100 Bewertung abgeben Diskussion zur Arbeit Hochwertige Druck- und Speicherversion dieser Arbeit downloaden (gezipptes PDF) Preis: Nur 1,49 EUR ...mehr Infos Muscular Dystrophy is an umbrella term used it indicate a group of progressive, genetically determined disorders of skeletal and sometimes cardiac muscles which are all very rare. The main feature they have in common is a loss of muscular tissue leading to an increasing weakness of the affected limbs. The severity of this weakness determines the prognosis of the disease and differs greatly in the various forms of dystrophies. These different forms, all named after the first describer, can be distinguished by three characteristics: mode of inheritance (X-linked recessive, autosomal recessive and autosomal dominant), the age of onset and the group of muscles where the disease starts. As yet research has failed to explain the exact mechanism of the degeneration of muscular fibers. In some forms there seems to be a lack of a certain protein, called dysthrophin, which is part of the healthy muscular cell membrane.

68. Untitled Document Effects of Coenzyme Q10 on muscular dystrophies and neurogenic atrophies.Folkers K ; Simonsen R. Two successful doubleblind trials http://www.orthomed.org/news/abstr2.htm

Effects of Coenzyme Q10 on muscular dystrophies and neurogenic atrophies. Folkers K ; Simonsen R Biochim Biophys Acta 1995 May 24;1271(1):281-6 Back

69. Thomas A. Rando Research Interests Cell death and cell survival in muscular dystrophies; regulationof cellular antioxidant defenses; mechanism of agerelated muscle atrophy http://www-med.stanford.edu/sbrc/faculty/sbrc_fac_list/rando.html

Thomas A. Rando Title Assistant Professor Department Neurology and Neurological Sciences Research Interests Cell death and cell survival in muscular dystrophies; regulation of cellular antioxidant defenses; mechanism of age-related muscle atrophy; gene therapy for muscular dystrophies. Email rando@stanford.edu Phone Fax Address Mail Code: 5235 Faculty Research Description Taverna D, Disatnik M-H, Rayburn H, Bronson RT, Yang J, Rando TA, Hynes RO (1998) Dystrophic muscle in mice chimeric for alpha5 integrin. J Cell Biol, 143: 849-859 Disatnik M-H, Dhawan J, Yu Y, Beal MF, Whirl MM, Franco AA, Rando TA (1998) Evidence of oxidative stress in mdx mouse muscle: Studies of the pre-necrotic state. J Neurol Sci, 161: 77-84. Rando TA, Crowley RS, Carlson E, Epstein CJ, Mohapatra PK (1998) Overexpression of Cu,Zn-superoxide dismutase: A novel cause of murine muscular dystrophy. Ann Neurol, 44: 381-386. Franco AA, Odom RS, Rando TA (1999) Regulation of antioxidant enzymes in response to oxidative stress and differentiation in skeletal muscle. Free Rad Biol Med, 27: 1122-1132. Disatnik M-H, Rando TA (1999) Integrin mediated muscle cell spreading: the role of protein kinase C in outside-in and inside-out signaling and evidence of integrin cross-talk. J Biol Chem, 274: 32486-32492.

70. Muscular Dystrophies Resources On The Internet HealthCyclopedia, muscular dystrophies. MD Health Portals, Life ExtensionFoundation Vitamin and Herbal Treatment Protocol Life Extension http://www.healthcyclopedia.com/muscular_dystrophies.html

Home Health Conditions by Category ... Contact Us Muscular Dystrophies MD Health Portals Life Extension Foundation : Vitamin and Herbal Treatment Protocol Life Extension Foundation : Recommended Vitamin and Herbal Products Mayo Clinic Online : Muscular Dystrophies Health News Search millions of published articles for news on Muscular Dystrophies The eLibrary newspaper and magazine archive contains articles from current and back issues of hundreds of publications, including: Modern Medicine Aging The Ardell Wellness Report HealthFacts The Journal of Environmental Health Medical Post Medical Update Men's Health and the National Women's Health Report Note: To access the full text of articles, sign up for a seven-day no-risk free trial subscription to eLibrary. Message Boards Usenet : alt.support.musc-dystrophy Usenet : sci.med.diseases.musc-dystrophy Web Directory Subtopics: Organizations Personal Pages Web Links: Bruce's Muscular Dystrophy Links - Links to Muscular Dystrophy sites. Cell Therapy Research Foundation - Not-for-profit medical research foundation working to find a treatment for muscular dystrophy and other genetic diseases through cell/gene therapy. Site describes treatments and clinical trials. DMD Forum - An International forum providing support and resources for families and individuals facing the challenge of Duchenne Muscular Dystrophy.

71. X-LINKED MUSCULAR DYSTROPHIES XLINKED muscular dystrophies. A discussion of the X-linked forms-Duchenne,Becker, and Emery-Dreifuss muscular dystrophies-follows below. http://endeavor.med.nyu.edu/student-org/ama/docs/mgb1999-2000/ab11.htm

72. UI Studies Find Molecular Basis For Brain Defects In Certain Muscular Dystrophie UI studies find molecular basis for brain defectsin certain muscular dystrophies. Mostmuscular dystrophies, as the name suggests, weaken and destroy muscles. http://www.uihealthcare.com/news/news/2002/07/29muscdist.html

UI Health Care News Archive News by medical specialty News archive for 2002 News archive for 2001 ... News archive for 1999 - UI Health Care's digital library Send comments and questions to staff@uihealthcare.com University of Iowa UI Health Care News: Week of July 29, 2002 UI studies find molecular basis for brain defectsin certain muscular dystrophies Piecing together a biochemical and genetic puzzle, University of Iowa researchers and their colleagues have revealed a new molecular mechanism that appears to be the root cause of a subset of muscular dystrophies. Most muscular dystrophies, as the name suggests, weaken and destroy muscles. However, dystrophies such as Fukuyama Congenital Muscular Dystrophy, Walker-Warburg Syndrome (WWS) and Muscle-Eye-Brain (MEB) disease also involve brain abnormalities that cause severe mental retardation in patients. "They are an interesting group of dystrophies because they affect more than just muscle," said Kevin Campbell, Ph.D., the Roy J. Carver Chair of Physiology and Biophysics and interim head of the department, UI professor of neurology, and a Howard Hughes Medical Institute (HHMI) Investigator.

73. Faculty Page The muscular dystrophies are progressive disorders of striated muscleleading to breakdown of muscle integrity. Underlying this http://www.hms.harvard.edu/dms/bbs/fac/kunkel.html

Louis M. Kunkel Department of Genetics and Pediatrics Children's Hospital Enders Building, 5th Floor 300 Longwood Avenue Boston, MA 02115 Tel: (617) 355-6729 Fax: (617) 277-0496 Email: kunkel@enders.tch.harvard.edu 6 postdoctoral fellows, 2 graduate students Rotation Projects: Search for novel dystrophin-associated proteins and the role they might play in the pathogenesis of muscular dystrophy. Characterization of muscle stem cells as a potential way of introducing normal genes into diseased muscle. Study the dystrophin complex of proteins in a zebrafish model of muscular dystrophy. Search for novel dystrophin-associated proteins by chemical cross-linking in muscle cells. References: Gussoni, E. et al. 1997. The fate of individual myoblasts following transplantation into muscles of DMD patients. Nat Med Gussoni, E. et al. 1999. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature Thompson T.G. et al. 2000. Filamin 2 (FLN2): A muscle specific sarcoglycan interacting protein. J Cell Biol Back to the top BBS Home Faculty organized by: Last Name Field of Study Organism Experimental Approach

74. ASCB Newsroom - Press Book Carpén Back to Press Book Web Edition Table of Contents, Back to ASCB NewsroomFront Page, A cellular clue to certain muscular dystrophies http://www.ascb.org/newsroom/pb99/carpen.html

ASCB Press Contact: Tim Leshan ASCB Director of Public Policy 9650 Rockville Pike Bethesda, MD 20814 tleshan@ascb.org http://ascb.org/ascb/ Back to Press Book Web Edition Table of Contents Back to ASCB Newsroom Front Page A cellular clue to certain muscular dystrophies At the ASCB Meeting: Halls A/B On display: Sun., 12/12, 6:30 pm - 9:00 pm Mon., 12/13, 7:30 am - 5:30 pm Authors present: Mon., 12/13, 12:00 Noon - 1:30 pm Board #283 Departments of Pathology and Medical Genetics Haartman Institute, Dept. of Pathology University of Helsinki P.O. Box 21, (Haartmaninkatu 3) 00014 Helsinki, Finland Contact: Senior Investigator of the Academy of Finland fax +3589 1912 6700 Olli.Carpen@ helsinki.fi Public Information Officer: Public Relations and Press Office University of Helsinki P.O. Box 33 (Yliopistonkatu 4) 00014 Helsinki, Finland fax +358 9 1912 3010 minna.merilainen@helsinki.fi

75. Neuropathic Disorders And Muscular Dystrophies The summary for this Chinese (Traditional) page contains characters that cannot be correctly displayed in this language/character set. http://www.cgmh.org.tw/intr/intr4/c837b/CONTENTS/neuropathicdisorder.htm

76. Muscular Dystrophy - Duchenne's And Becker Types Explained of weakness, although Duchenne is more severe. These muscular dystrophiesusually lead to wheelchair dependence and early death. http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Muscular_dystroph

77. RDS (Research Defence Society), Muscular Dystrophy Michele DE, Barresi R, Kanagawa M (2002) Posttranslational disruption of dystroglycan-ligandinteractions in congenital muscular dystrophies Nature 418, 417; http://www.rds-online.org.uk/milestones/mdystrophy.html

Muscular dystrophy Muscular dystrophy is an inherited disease, usually affecting boys, when the lack of a protein called dystrophin leads to muscle wasting and death in early adulthood. Two boys are born every week in the UK with the commonest inherited form, Duchenne muscular dystrophy, which first appears at ages 2-16. Rarer forms include congenital MD. A strain of mice and some breeds of dogs also suffer from muscular dystrophy. These animals are being used to understand more about muscular dystrophy and to study the possibility of gene therapy. Gene therapy aims to deliver the normal dystrophin gene to the affected muscle, producing dystrophin in sufficient quantities to halt the wasting process . This is difficult because the dystrophin gene is so big. Effective delivery systems to get genes into muscles have been successful in mice A more successful approach has been to use the gene for a related protein, utrophin, which is smaller. When it was given to affected mice, their muscles produced utrophin and reduced muscle damage. A smaller dystrophin minigene has also been engineered. It even reversed progression of the disease in mice . Targeted gene repair has been successful in golden retrievers that suffer naturally from MD. This approach used a manufactured molecule containing both DNA and RNA, which enabled the cell to use its own repair mechanism to correct the gene defect

78. Muscular Dystrophy Campaign Fact Sheets About Specific Conditions View on browser. Becker muscular dystrophy. Charcot Marie Tooth disease (CMT)(HMSN) (peroneal muscular atrophy). Congenital muscular dystrophy (CMD). http://www.muscular-dystrophy.org/information/KeyFacts/advice.html

@import "../../css/cssstyle.css"; Receive copies of our quarterly magazine Get your message to over 30,000 readers by advertising in Target MD magazine. Call for details: David N Russell Fact sheets about specific conditions If you are trying to find out more about a diagnosis, try to get a precise definition of the problem from your doctor. Some conditions have names that are similar to others. If you have a printer, you can print the page and discuss it with your doctor. Becker muscular dystrophy Central Core myopathy Charcot Marie Tooth disease (CMT) (HMSN) (peroneal muscular atrophy) Congenital muscular dystrophy (CMD) Congenital myotonic dystrophy Congenital fibre disproportion myopathy Duchenne muscular dystrophy (DMD) Duchenne muscular dystrophy: the older child (DMD) Emery-Dreifuss muscular dystrophy (EMD) Facioscapulohumeral muscular dystrophy (FSH) Inclusion Body Myositis Juvenile dermatomyositis Limb Girdle muscular dystrophy (LGMD) Manifesting carriers McArdle's Disease Metabolic disorders Minicore (multicore) myopathy ... Myositis Ossificans Progressiva (MOP) Myotubular or Centronuclear myopathy Nemaline myopathy Ocular myopathies Periodic paralysis ... Events Information Support Us Contact Us Latest News Links ... Guest Book

79. Nature Publishing Group Article. Identification of female carriers for Duchenne and Becker musculardystrophies using a FISHbased approach. Azra H Ligon, Catherine http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v8/n4/abs/5200450a

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