𝔖 Bobbio Scriptorium
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Autosomal recessive generalized myotonia

✍ Scribed by Dr. Sallie F. Sun; Erich W. Streib

Book ID
102954119
Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
561 KB
Volume
6
Category
Article
ISSN
0148-639X

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✦ Synopsis

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 contractures. The first degree cousin was the most severely afflicted with congenital myotonia. Muscle biopsy and electromyography were consistent with a myopathy. Exercise after rest demonstrated a marked reduction in muscle membrane excitability in all patients.

πŸ“œ SIMILAR VOLUMES

Autosomal recessive generalized myotonia
Autosomal recessive generalized myotonia
✍ Dr. H. Zellweger; Dr. L. Pavone; A. Biondi; V. Cimino; Dr. F. Gullotta; Dr. M. H πŸ“‚ Article πŸ“… 1980 πŸ› John Wiley and Sons 🌐 English βš– 526 KB
Heterozygote manifestation in recessive
Heterozygote manifestation in recessive generalized myotonia
✍ P. E. Becker πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 289 KB

The frequency of heterozygotes of recessive generalized myotonia may be estimated at about 1/108 in the German Federal Republic. Some heterozygotes can be identified by an EMG. However, apart from this, apparently 2%--5% of heterozygotes may show minor subclinical manifestations. Sporadic cases of m