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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  

From Peripheral Smear to Genetic Diagnosis: Jordan’s Anomaly Revealing a Novel PNPLA2 Variant in Neutral Lipid Storage Disease With Myopathy

Author:Thulasimani, Ilaiyabharathi   Mani, Sathish Kumar   Jaikrishnan, Aishwarya   M, Nirumal Khumar   G, Anoosh   

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

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P8.013  

Author Institution:Madras Medical College, Chennai, Erode, India  Saveetha Medical College and Hospital, Chennai, India  

Revealing Hidden Inflammation: Whole Body STIR MRI Detects Subclinical Disease in Dermatomyositis

Author:bijjiga, siphorakrupalini   Cheekatla, Priyanka   maramattom, boby varkey   Akudari, Vidyasagar   

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

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P8.015  

Author Institution:Aster Medcity , cheranallor , Kochi , India  KMC Hospital , Mangalore , India  Kakatiya Medical college , Hanamkoda, India  

Myositis-Specific Antibody Testing: Methods Matter!

Author:Martins, Thomas   Ghazaryan, Arevik   Smith, Tammy   Odrobina, Dorota   Lin, Leo   Peterson, Lisa   

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

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P8.016  

Author Institution:ARUP Laboratories, Salt Lake City, UT  University of Utah, Salt Lake City, UT  Imaging and Neurosciences Center, Salt Lake City, UT  University of Utah, UT