muscle-velocity-recovery-cycles-to-examine-muscle-membrane-properties

Muscle Velocity Recovery Cycles to Examine Muscle Membrane Properties

Although conventional nerve conduction studies (NCS) and electromyography (EMG) are suitable for the diagnosis of neuromuscular disorders, they provide ...

The National Hospital for Neurology and Neurosurgery

To improve the accuracy of genotype prediction and guide genetic testing in patients with muscle channelopathies we applied and refined specialized electrophysiological exercise test parameters.

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride-channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, using comparisons with myotonia congenita (MC).

In vivo assessment of muscle membrane properties in myotonic dystrophy.

The gain-of-function mutations that underlie sodium channel myotonia (SCM) and paramyotonia congenital (PMC) produce differing clinical phenotypes. We used muscle velocity recovery cycles (MVRCs) to investigate membrane properties.

Article	Year
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. Annals of neurology\| PubMed ID: 21387378	2011
In vivo assessment of muscle membrane properties in myotonic dystrophy. Muscle & nerve\| PubMed ID: 26789642	2016
In vivo assessment of muscle membrane properties in the sodium channel myotonias. Muscle & nerve\| PubMed ID: 28877545	2018

S. Veronica Tan

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