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Updated: Mar 15, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study
Francesco Bombelli1, Ludovico Lispi1, Sandro Costanzi Porrini2
1Neuromuscular and Neurological Rare Diseases Centre, Neurology and Neurophysiology Unit, S. Camillo Forlanini Hospital, C. Gianicolense, 87-00152, Rome, Italy.
Objectives:
Weakness and fatigue are frequent symptoms in myotonic dystrophy type 1 (DM1), mainly as a result of muscle impairment. However, neuromuscular junction (NMJ) abnormalities could play an additional role in determining these manifestations. We aimed to document the possible NMJ involvement in DM1.
Patients And Methods:
In order to substantiate this hypothesis we performed low rate repetitive nerve stimulation (RNS) and single fiber electromyography (SFEMG), in 14 DM1 subjects.
Results:
RNS resulted abnormal in four patients while SFEMG revealed a pathological jitter in ten. A significative correlation was found between jitter values and decrementing response (p<0.000311; r=0.822).
Conclusion:
These results suggest a possible involvement of NMJ in DM1.
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