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Dystrophinopathies Differential Diagnoses

  • Author: Dinesh G Nair, MD, PhD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
Updated: Apr 10, 2014
Contributor Information and Disclosures

Dinesh G Nair, MD, PhD Fellow of Clinical Neurophysiology, Department of Neurology, Rhode Island Hospital, Brown University, Providence

Dinesh G Nair, MD, PhD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.


Michelle L Mellion, MD Assistant Professor of Neurology, The Warren Alpert Medical School of Brown University, Rhode Island Hospital

Michelle L Mellion, MD is a member of the following medical societies: American Academy of Neurology, Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Nicholas Lorenzo, MD, MHA, CPE Founding Editor-in-Chief, eMedicine Neurology; Founder and CEO/CMO, PHLT Consultants; Chief Medical Officer, MeMD Inc

Nicholas Lorenzo, MD, MHA, CPE is a member of the following medical societies: Alpha Omega Alpha, American Association for Physician Leadership, American Academy of Neurology

Disclosure: Nothing to disclose.

Additional Contributors

Paul E Barkhaus, MD Professor of Neurology and Physical Medicine and Rehabilitation, Department of Neurology, Medical College of Wisconsin; Section Chief, Neuromuscular and Autonomic Disorders, Department of Neurology, Director, ALS Program, Medical College of Wisconsin

Paul E Barkhaus, MD is a member of the following medical societies: American Academy of Neurology, American Neurological Association, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.


The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author James M Gilchrist, MD and coauthor Brian S Tseng, MD, PhD to the development and writing of this article.

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Structure of the dystroglycan complex (adapted from Ozawa et al).
The molecular organization of integral and peripheral components of the dystrophin-glycoprotein complex and novel proteins involved in muscular dystrophy in skeletal muscle.
Point vs frameshift mutations. In contrast to most point mutations, which generally preserve the reading frame, frameshift mutations often lead to truncated protein products.
Dystrophic muscle (A = Gomori trichrome; B = hematoxylin and eosin [H&E] stain).
Gowers sign.
(A) Normal dystrophin staining.(B) Intermediate dystrophin staining in a patient with Becker muscular dystrophy.(C) Absent dystrophin staining in a patient with Duchenne muscular dystrophy.
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