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Care of Dystrophinopathy Carriers: Survey Results of Provider Practices in the United States

Author:Scavina, Mena   Banks, Kayla   Cappa, Ryan   Chambers, Chelsea   

Session Name:P8: Neuromuscular and Clinical Neurophysiology (EMG): Muscle Disorders  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P8.007  

Author Institution:Parent Project Muscular Dystrophy, Washington, DC  Parent Project Muscular Dystrophy, DC  University of Virginia, Dept of Neurology, Charlottesville, VA  University of Virginia, Dept of Neurology, VA  

Expanding the Spectrum of COXFA4-Related Disease: A Case of a Reclassified Pathogenic Variant

Author:Rana, Shehroz   Giammarco, Danielle   Fitch, Courtney   Tang, Connie   

Session Name:P8: Neuromuscular and Clinical Neurophysiology (EMG): Muscle Disorders  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P8.008  

Author Institution:Lehigh Valley Health Network, Allentown, PA  Lehigh Valley Health Network, Bethlehem, PA  Lehigh Valley Health Network, PA  

Two Novel Mutations in the HMGCR Gene Causing Autosomal Recessive Limb-girdle Muscular Dystrophy

Author:Stevens, Taylor   Bontrager, Jordan   Hamel, Johanna   

Session Name:P8: Neuromuscular and Clinical Neurophysiology (EMG): Muscle Disorders  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P8.009  

Author Institution:University of Rochester, Rochester, NY  University of Rochester, Neurology, Rochester, NY  

Case Report: Clinical and Genetic Characterization of Late-onset Pompe Disease in an Adolescent Carrying a Rare GAA Coding Mutation

Author:Lopez Diaz, Veronica Ivonne   Meza-Cano, Maria Elena   Aguilar Venegas, Ana Carolina   

Session Name:P8: Neuromuscular and Clinical Neurophysiology (EMG): Muscle Disorders  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P8.010  

Author Institution:Tecnológico de Monterrey. School of Medicine and Health Science, Monterrey, Mexico  Hospital Christus Muguerza , Monterrey, Mexico  Hospital Angeles Ciudad Juárez, Mexico, JUAREZ, Mexico  

A Novel TWNK Variant in a 63-Year-Old Man Presenting with CPEO, Myopathy, Neuropathy, and Parkinsonism

Author:Wolfe, Jared   Jen, Joanna   Patterson, Shanna   Shin, Susan   

Session Name:P8: Neuromuscular and Clinical Neurophysiology (EMG): Muscle Disorders  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P8.011  

Author Institution:Mount Sinai Hospital, New York, NY  Dept Neurology, Icahn School of Medicine at Mt Sinai, New York, NY  Mount Sinai West Department of Neurology, New York, NY