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Mitochondrial Trifunctional Protein Deficiency Masquerading as Charcot-Marie-Tooth Disease

Author:Cakar, Arman   Mus, Bilgehan   Durmus, Hacer   Parman, Fatma Yesim   

Session Name:P3: Neuromuscular and Clinical Neurophysiology (EMG): Case Studies in Neuromuscular Medicine 2  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P3.013  

Author Institution:Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey  Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Turkey  

A PNPLA6 Variant Case Report With a Combination of Heterozygous Mutations

Author:Blackbourn, Lisle   Chai, Eric   Zallek, Christopher   

Session Name:P3: Neuromuscular and Clinical Neurophysiology (EMG): Case Studies in Neuromuscular Medicine 2  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P3.014  

Author Institution:University of Illinois College of Medicine Peoria, Elkhorn, WI  University of Illinois College of Medicine Peoria, IL  University of Illinois College of Medicine Peoria, Peoria Heights, IL  

Rare Case of Hereditary Transthyretin Amyloidosis With a Val122Ile Mutation Presenting as Recurrent Foot Drop in a Young Woman

Author:Khan, Imran   Malik, Hanna   LaBoy, Shannon   

Session Name:P3: Neuromuscular and Clinical Neurophysiology (EMG): Case Studies in Neuromuscular Medicine 2  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P3.015  

Author Institution:University of Florida Jacksonville, FL  UF Health Neurology, Jacksonville, FL  

Young-Adulthood Onset Chronic Cough as a Three Decades Prodrome of RFC1-related Autonomic and Sensory Neuropathy

Author:Marden, Kyle   Rakocevic, Goran   

Session Name:P3: Neuromuscular and Clinical Neurophysiology (EMG): Case Studies in Neuromuscular Medicine 2  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P3.016  

Author Institution:Northwestern Medicine, Chicago, IL  Thomas Jefferson University, Philadelphia, PA  

Hereditary Myopathy With Early Respiratory Failure, Mimicking CIDP: Diagnostic Challenges With Atypical Presentations

Author:Choi, Minna   Zakin, Elina   

Session Name:P3: Neuromuscular and Clinical Neurophysiology (EMG): Case Studies in Neuromuscular Medicine 2  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P3.017  

Author Institution:NYU Grossman School of Medicine, New York, NY