Myotonia fluctuans: a third type of muscle sodium channel disease
K Ricker, RT Moxley, R Heine… - Archives of …, 1994 - jamanetwork.com
Objectives: To define a new type of dominant myotonic muscle disorder and to identify the
gene lesion. Design: Case series, clinical examination and electromyography,
measurements of grip force and relaxation time, and DNA analysis to probe for mutation in
the gene for the skeletal muscle sodium channel. Setting: Outpatient clinic and home.
Patients: Three families studied; all together, 17 affected and nine unaffected individuals.
Results: The findings in these three families confirm the existence of myotonia fluctuans as …
gene lesion. Design: Case series, clinical examination and electromyography,
measurements of grip force and relaxation time, and DNA analysis to probe for mutation in
the gene for the skeletal muscle sodium channel. Setting: Outpatient clinic and home.
Patients: Three families studied; all together, 17 affected and nine unaffected individuals.
Results: The findings in these three families confirm the existence of myotonia fluctuans as …
