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Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review
Simona Portaro +2 more
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BACKGROUND Abnormal delayed relaxation of skeletal muscles, known as myotonia, can cause disability in myotonic disorders. The main myotonic disorders are non-dystrophic myotonia and myotonic dystrophy.
Jennifer Spillane +6 more
semanticscholar +1 more source
BACKGROUND Abnormal delayed relaxation of skeletal muscles, known as myotonia, can cause disability in myotonic disorders. The main myotonic disorders are non-dystrophic myotonia and myotonic dystrophy.
Jennifer Spillane +6 more
semanticscholar +1 more source
Muscle and Nerve, 2019
Introduction: The objective of this study was to develop a simple method for quantitative assessment of myotonia in patients with myotonic dystrophy type 1 (DM1) and DM2, to compare the myotonia severity, and to correlate this objective outcome with a ...
Magda Horáková +4 more
semanticscholar +1 more source
Introduction: The objective of this study was to develop a simple method for quantitative assessment of myotonia in patients with myotonic dystrophy type 1 (DM1) and DM2, to compare the myotonia severity, and to correlate this objective outcome with a ...
Magda Horáková +4 more
semanticscholar +1 more source
The inherited myotonias are a complex group of diseases caused by variations in genes that encode or modulate the expression of ion channels that regulate muscle excitability. These variations alter muscle membrane excitability allowing mild depolarization, causing myotonic discharges.
Karen, Suetterlin +2 more
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Karen, Suetterlin +2 more
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2010
Abstract Myotonia is defined at an electrical level as repetitive discharge of the muscle fibre membrane after initial activation, which occurs due to dysfunction of the membrane’s ion channels, most commonly the chloride channel, less commonly the sodium channel.
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Abstract Myotonia is defined at an electrical level as repetitive discharge of the muscle fibre membrane after initial activation, which occurs due to dysfunction of the membrane’s ion channels, most commonly the chloride channel, less commonly the sodium channel.
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Myotonia Congenita with “Delayed Myotonia.”
Proceedings of the Royal Society of Medicine, 1960V, DUBOWITZ, D, LAWSON
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Abstract Myotonia as a failure of a muscle to relax after a forceful contraction is an important sign of a group of myopathies that are usually inherited. Failure to relax hand grip after a handshake is the first diagnostic alert. In addition to action myotonia, percussion usually induces myotonia of the percussed muscles (tongue, wrist ...
Mohammad Kian Salajegheh +1 more
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Mohammad Kian Salajegheh +1 more
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