X-linked myotubular myopathy

Results: 10



#Item
1Myopathy / Rare diseases / Nemaline myopathy / Congenital myopathy / Central core disease / Muscle biopsy / Neuromuscular disease / Malignant hyperthermia / X-linked myotubular myopathy / Health / Medicine / Centronuclear myopathy

Journal http://jcn.sagepub.com/ of Child Neurology Consensus Statement on Standard of Care for Congenital Myopathies Ching H. Wang, James J. Dowling, Kathryn North, Mary K. Schroth, Thomas Sejersen, Frederic Shapiro, Jon

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Source URL: www.ann.org.au

Language: English - Date: 2012-04-05 00:23:08
2Centronuclear myopathy / X-linked myotubular myopathy / Myopathy / Myotubularin 1 / Physical therapy / Neurology / Rehabilitation / Medicine / Health / Rehabilitation medicine

Winter[removed]Volume VI, Issue 4 Letter From the Chairman

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Source URL: rehab.washington.edu

Language: English - Date: 2014-03-24 17:57:07
3X-linked myotubular myopathy / Myotubularin 1 / Medicine / X-linked recessive inheritance / Hereditary spherocytosis / Peliosis hepatis / Centronuclear myopathy / Health / Biology

M Medical complications in long-term survivors with X-linked myotubular myopathy Gail E. Herman, MD, PhD, Milton Finegold, MD, Wei Zhao, MS, Beatrice de Gouyon, PhD, and

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Source URL: www.joshuafrase.org

Language: English - Date: 2013-04-25 12:26:35
4Centronuclear myopathy / Motor neurone disease / Myopathy / Scoliosis / Spinal fusion / Hypotonia / Muscle biopsy / Weakness / X-linked recessive inheritance / Medicine / Health / Anatomy

ORIGINAL ARTICLE Orthopaedic Complications of Myotubular Myopathy Patrick J. Cahill, MD, Anthony S. Rinella, MD, and Robert J. Bielski, MD Abstract: Myotubular myopathy is a rare genetic disease that was

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Source URL: www.joshuafrase.org

Language: English - Date: 2013-04-19 21:27:19
5Myopathy / Rare diseases / Nemaline myopathy / Congenital myopathy / Central core disease / Muscle biopsy / Neuromuscular disease / Malignant hyperthermia / X-linked myotubular myopathy / Health / Medicine / Centronuclear myopathy

Journal http://jcn.sagepub.com/ of Child Neurology Consensus Statement on Standard of Care for Congenital Myopathies Ching H. Wang, James J. Dowling, Kathryn North, Mary K. Schroth, Thomas Sejersen, Frederic Shapiro, Jon

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Source URL: www.curecmd.org

Language: English - Date: 2012-12-17 15:48:19
6Medical genetics / Recessive / Health / X-linked myotubular myopathy / Fertility medicine / Centronuclear myopathy / Genetics / Biology / Myotubularin 1

Microsoft Word - FINAL_Genetics Handout for JFF_9[removed]docx

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Source URL: www.joshuafrase.org

Language: English - Date: 2013-11-25 20:47:18
7Centronuclear myopathy / Medical genetics / X-linked myotubular myopathy / Myotubularin 1 / Genetic testing / Muscle biopsy / Myopathy / Neuromuscular disease / Chromosome 19 / Health / Medicine / Biology

The University of Chicago Genetic Services Laboratories 5841 S. Maryland Ave., Rm. L035, MC 0077, Chicago, Illinois[removed]Toll Free: (888) UC GENES[removed]Local: ([removed]FAX: ([removed]ucgslabs@geneti

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Source URL: www.joshuafrase.org

Language: English - Date: 2013-04-16 12:32:05
8Centronuclear myopathy / X-linked myotubular myopathy / Paul Frase / Myotubularin 1 / Neuromuscular disease / Myopathy / Gene therapy / MTM / Congenital myopathy / Biology / Health / National Football League

Gene   Replacement Therapy A Boy With the Will to Live From the moment of Joshua Frase’s birth, doctors were saying that the odds were he wouldn’t live through the day. How

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Source URL: www.joshuafrase.org

Language: English - Date: 2014-02-11 15:25:33
9Centronuclear myopathy / Muscular system / X-linked myotubular myopathy / Myotubularin 1 / Myopathy / Muscle biopsy / X-linked recessive inheritance / Neuromuscular disease / Weakness / Anatomy / Biology / Health

J Neuropathol Exp Neurol Copyright Ó 2005 by the American Association of Neuropathologists, Inc. Vol. 64, No. 7 July 2005 pp. 555–564

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Source URL: www.joshuafrase.org

Language: English - Date: 2013-04-19 21:27:19
10Myopathy / Questionnaire / Science / Methodology / Evaluation / X-linked myotubular myopathy / Centronuclear myopathy / Myotubularin 1

MTM1 Carrier Survey Goal/Object of StuDY The Beggs Lab invites MTM1 carriers to complete a questionnaire examining the features and

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Source URL: www.joshuafrase.org

Language: English - Date: 2014-05-07 14:19:53
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