Autosomal recessive myotonia congenita in sheep
β Scribed by GA Moore; KR Dyer; RM Dyer; DP Sponenberg
- Book ID
- 114998029
- Publisher
- BioMed Central
- Year
- 1997
- Tongue
- French
- Weight
- 438 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0999-193X
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π SIMILAR VOLUMES
## Abstract Two siblings and a first degree cousin of a consanguinous marriage were afflicted with recessive generalized myotonia (RGMy). All had muscle weakness which was particularly prominent after rest, thinning of the forearms, weakness of anterior compartment muscles, and muscular contracture
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
The maximum force of voluntary muscle contraction was registered under isometric conditions in nine patients with recessive myotonia congenita. The recordings were made on the upper arm. Five patients with severe myotonia had a transient weakness after muscle rest. Electromyographic registrations wi