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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  

VCP c.572G>A (p.Arg191Glu) AD Gene Mutation Inclusion Body Myopathy: A Case Report

Author:Arora, Sarah   Mott, Katherine   Baskaran, Archit   Soliven, Betty   Lara, Carlos   Rezania, Kourosh   

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

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P8.012  

Author Institution:University of Chicago, Chicago, IL