Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family
Articolo
Data di Pubblicazione:
1994
Citazione:
Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family / V. Sansone, G. Rotondo, L.J. Ptacek, G. Meola. - In: ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES. - ISSN 0392-0461. - 15:9(1994 Dec), pp. 473-480.
Abstract:
The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC pheno-type) or changes in extracellular K+ levels resulting from various precipitating factors (hyperkalemic periodic paralysis, HYPP and hypokalemic periodic paralysis, Hypo PP). It is now known that HYPP maps to chromosome 17q, and that PC and a form of myotonia congenita without periodic paralysis also map to the 17q locus, thus indicating that they derive from allelic variants. So far, these disorders have been described in various ethnic groups but, to our knowledge, have never been reported in Italy. We describe a mutation in an S4 segment of the adult skeletal muscle sodium channel in a clinically-defined Italian family that leads to the paramyotonia congenita (PC) phenotype with dominant autosomal inheritance and temperature-related symptoms (regional weakness following cooling and exercise), present since childhood in all of the affected family members.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
mexiletine; mutation; myotonia; paramyotonia congenita; sodium channel
Elenco autori:
V. Sansone, G. Rotondo, L.J. Ptacek, G. Meola
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