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Rhabdomyolysis: a narrative review. [PDF]
Arq NeuropsiquiatrTengan CH +6 more
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Pregnancy in women with myotonia congenita
International Journal of Gynecology and Obstetrics, 2009A 36-year-old woman in her second pregnancy was referred for shared care. She had a strong first-degree family history of myotonia congenita, as her grandmother, mother, and siblings were affected with the CLCN1 mutation associated with a dominant pattern of inheritance.
Abhijit, Basu +2 more
exaly +3 more sources
Phenotypic variability in myotonia congenita
Muscle and Nerve, 2005AbstractMyotonia congenita is a hereditary chloride channel disorder characterized by delayed relaxation of skeletal muscle (myotonia). It is caused by mutations in the skeletal muscle chloride channel gene CLCN1 on chromosome 7. The phenotypic spectrum of myotonia congenita ranges from mild myotonia disclosed only by clinical examination to severe and
exaly +3 more sources
Exon 17 skipping inCLCN1 leads to recessive myotonia congenita
Muscle and Nerve, 2004 Mutations in CLCN1, the gene encoding the ClC-1 chloride channel in skeletal muscle, lead to myotonia congenita. The effects on the intramembranous channel forming domains have been investigated more than that at the intracellular C-terminus.
Lie Chen, Zen H Lu
exaly +2 more sources
Electrical myotonia in heterozygous carriers of recessive myotonia congenita
, 1999 We investigated electrophysiologically the unaffected parents of patients with recessive myotonia congenita. We studied 18 families, in nine of which the diagnosis was confirmed by molecular genetics.
Feza Deymeer, F Lehmann-Horn, R Rudel
exaly +1 more source
Seminars in Neurology, 1991
There are two types of MC, autosomal dominant and autosomal recessive (also called recessive generalized myotonia), both with the predominant clinical feature of diffuse myotonia. Recessive MC patients have more weakness than patients with dominant MC. MC patients of both types have a normal life span. Ongoing genetic studies have not as yet identified
L, Gutmann, L H, Phillips
openaire +2 more sources
There are two types of MC, autosomal dominant and autosomal recessive (also called recessive generalized myotonia), both with the predominant clinical feature of diffuse myotonia. Recessive MC patients have more weakness than patients with dominant MC. MC patients of both types have a normal life span. Ongoing genetic studies have not as yet identified
L, Gutmann, L H, Phillips
openaire +2 more sources
Advances in genetics, 2009
Myotonia is a symptom of many different acquired and genetic muscular conditions that impair the relaxation phase of muscular contraction. Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle ...
Christoph, Lossin, Alfred L, George
openaire +3 more sources
Myotonia is a symptom of many different acquired and genetic muscular conditions that impair the relaxation phase of muscular contraction. Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle ...
Christoph, Lossin, Alfred L, George
openaire +3 more sources