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Novel DNA2 Mutation Leading to Mitochondrial DNA Deletions with MELAS-like Phenotype

Author:Datta, Abhigyan   Manousakis, Georgios   Chompoopong, Pitcha   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.031  

Author Institution:University of Minnesota, Minneapolis, MN  

Homozygous and Compound Heterozygous Mutations in the CLCN1 Gene Causes Myotonia in Two Related Saudi Families

Author:Pagliarani, Serena   Alabdulwahed, Alwaleed   Monfrini, Edoardo   Lucchiari, Sabrina   Comi, Giacomo   Di Fonzo, Alessio   AlAhmari, Aawadh   Abulaban, Ahmed   AlEyaid, Wafaa   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.032  

Author Institution:Department of Neurology, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia, Riyadh, Saudi Arabia  

Peripheral Neuropathy in Myofibrillar Myopathies (MFM) and MFM Gene-related Myopathies

Author:Wannarong, Thapat   Milone, Margherita   Selcen, Duygu   Dyck, P. James B.   Liewluck, Teerin   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.033  

Author Institution:Department of Neurology, Mayo Clinic, Rochester, MN, USA, Rochester, MN  

Riboflavin Responsive Slowly Progressive Early Onset Motor Neuron Disease Caused by a Novel Mutation in AIFM1

Author:Durmus, Hacer   Erzurumluoglu, Ebru   Onay Uçar, Evren   Cakar, Arman   Ceylaner, Serdar   Uyguner, Oya   Parman, Fatma Yesim   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.034  

Author Institution:Department of Neurology, Istanbul Faculty of Medicine, Istanbul, Turkey  Istanbul Üni. Çapa, ISTANBUL, Turkey  Istanbul Üniversitesi Tip Fakültesi, Istanbul, Turkey