Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy
نویسندگان
چکیده
منابع مشابه
Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber model by both hyperpolarizing shifts in t...
متن کاملClinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
BACKGROUND AND PURPOSE Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myo...
متن کاملSkeletal muscle sodium current is reduced in hypokalemic periodic paralysis.
H periodic paralysis (HypoPP), described a recent issue of PNAS by Jurkat-Rott and colleagues (1), has great scientific and clinical interest because its pathophysiology touches on several important properties of skeletal muscle. Besides providing the force for movement, skeletal muscle is an electrically excitable tissue and an important endocrine target organ as the largest protein store for ...
متن کاملTargeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.
Hyperkalemic periodic paralysis (HyperKPP) produces myotonia and attacks of muscle weakness triggered by rest after exercise or by K+ ingestion. We introduced a missense substitution corresponding to a human familial HyperKPP mutation (Met1592Val) into the mouse gene encoding the skeletal muscle voltage-gated Na+ channel NaV1.4. Mice heterozygous for this mutation exhibited prominent myotonia a...
متن کاملParamyotonia congenita and skeletal sodium channelopathy.
Paramyotonia congenita, the major characteristics of which are cold-induced and exercise-induced myotonia, is an autosomal-dominant muscle disease which is classified into one of a group of muscle diseases, so-called muscle "sodium channelopathies" caused by missense mutations in the gene coding for the skeletal muscle sodium channel a-subunit (SCN4A) (1-4). Such muscle sodium channelopathies s...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2015
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2015.08.007