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Atypical myotonia congenita in a foal

✍ Scribed by Elizabeth K. Schooley; Jennifer M. MacLeay; Paul Cuddon; Stephanie J. Valberg


Book ID
113708805
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
182 KB
Volume
24
Category
Article
ISSN
0737-0806

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πŸ“œ SIMILAR VOLUMES


MYOTONIA CONGENITA IN PREGNANCY
✍ C. A. Hakim; J. Thomlinson πŸ“‚ Article πŸ“… 1969 πŸ› John Wiley and Sons 🌐 English βš– 143 KB
Phenotypic variability in myotonia conge
✍ Eskild Colding-JΓΈrgensen πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 192 KB

## Abstract Myotonia 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 mil

Electrical myotonia in heterozygous carr
✍ Feza Deymeer; Frank Lehmann-Horn; Piraye Serdaroğlu; SevinΓ§ Γ‡akirkaya; Sandra Be πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 67 KB

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. Brief myotonic discharges were present in at least one parent in 67% of the families. Fathers were

Pregnancy in women with myotonia congeni
✍ Abhijit Basu; Prathibha Nishanth; Olufela Ifaturoti πŸ“‚ Article πŸ“… 2009 πŸ› Elsevier Science 🌐 English βš– 95 KB