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A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism
Author(s) -
Green Donnella S.,
Hayward Lawrence J.,
George Alfred L.,
Can Stephen C.
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410420219
Subject(s) - periodic paralysis , hypokalemic periodic paralysis , point mutation , mutation , medicine , sodium channel , weakness , paralysis , muscle weakness , polymorphism (computer science) , coding region , endocrinology , genetics , gene , cardiology , biology , genotype , sodium , hypokalemia , anatomy , surgery , chemistry , organic chemistry
Twenty different point mutations have been identified in the gene coding for the α subunit of the adult skeletal muscle sodium channel in families with hyperkalemic periodic paralysis, paramyotonia congenita, and the potassium‐aggravated myotonias. One novel mutation (Val781Ile) was reported in an adopted boy with potassium‐sensitive weakness and cardiac dysrhythmia. The confidence in establishing this rare amino acid substitution as a causative mutation was limited by the absence of family members for segregation analysis. Functional expression studies herein show that Val781Ile is most likely a benign polymorphism and not a disese‐associated mutation.