Source:http://linkedlifedata.com/resource/pubmed/id/17212350
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
2007-5-21
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| pubmed:abstractText |
Muscle sodium-channel disorders cover a spectrum of rare myotonic diseases. In a German family with 17 affected individuals in four generations, we identified a heterozygous missense mutation in exon 24 A1481D (c.4442 C>A) of the voltage-gated sodium channel gene (SCN4A) alpha subunit. Phenotypes of 12 family members were characterized by a mild myotonia with cold sensitivity but without paramyotonia. The index patient presented with fluctuating cold- and exercise-induced stiffness of ocular, facial, and distal muscles. The myotonia became more severe at the age of 22 years. His father had had cold- and exercise-induced periodic weakness with fluctuating myotonia since age 10. Later he developed a more severe, purely exercise- and cold-aggravated myotonia of arms, hands, and facial muscles. The father's mother presented with cold-induced myotonia until age 65, when progressive weakness of proximal limb muscles developed. Her muscle biopsies revealed considerable myopathic changes with a variety of fine structural alterations. This study presents a family with cold-aggravated myotonia and progression of myopathic changes in the muscle biopsy with increasing age. In older patients, sodium channelopathies may mimic the phenotypic features of myotonic dystrophy type 2.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
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| pubmed:issn |
0148-639X
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
35
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
599-606
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| pubmed:dateRevised |
2008-11-21
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| pubmed:meshHeading |
pubmed-meshheading:17212350-Adult,
pubmed-meshheading:17212350-Aged,
pubmed-meshheading:17212350-Aged, 80 and over,
pubmed-meshheading:17212350-Alanine,
pubmed-meshheading:17212350-Amino Acid Substitution,
pubmed-meshheading:17212350-Aspartic Acid,
pubmed-meshheading:17212350-Cold Temperature,
pubmed-meshheading:17212350-DNA Mutational Analysis,
pubmed-meshheading:17212350-Female,
pubmed-meshheading:17212350-Germany,
pubmed-meshheading:17212350-Heterozygote,
pubmed-meshheading:17212350-Humans,
pubmed-meshheading:17212350-Male,
pubmed-meshheading:17212350-Middle Aged,
pubmed-meshheading:17212350-Mutation, Missense,
pubmed-meshheading:17212350-Myotonia Congenita,
pubmed-meshheading:17212350-Pedigree,
pubmed-meshheading:17212350-Sodium Channels
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
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| pubmed:affiliation |
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1a, 80336 Munich, and Department of Neuropathology, University Hospital, RWTH Aachen, Germany. bschoser@med.uni-muenchen.de
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| pubmed:publicationType |
Journal Article
|