✦ LIBER ✦

MYOTONIA CONGENITA IN PREGNANCY

✍ Scribed by C. A. Hakim; J. Thomlinson

Book ID: 111149962
Publisher: John Wiley and Sons
Year: 1969
Tongue: English
Weight: 143 KB
Volume: 76
Category: Article
ISSN: 1470-0328
DOI: 10.1111/j.1471-0528.1969.tb05883.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotypic variability in myotonia conge

Phenotypic variability in myotonia congenita

✍ Eskild Colding-Jørgensen 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 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

Electrical myotonia in heterozygous carriers of recessive myotonia congenita

✍ Feza Deymeer; Frank Lehmann-Horn; Piraye Serdaroğlu; Sevinç Çakirkaya; Sandra Be 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 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

Distinguishing paramyotonia congenita an

Distinguishing paramyotonia congenita and myotonia congenita by electromyography

✍ Dr. S. H. Subramony; Dr. C. P. Malhotra; Dr. S. K. Mishra 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 910 KB

## Abstract Compound muscle action potential (CMAP) amplitudes, response to 2 Hz nerve stimulation, response to exercise and electromyographic needle electrode examination findings from the thenar muscles of two patients with paramyotonia congenita were compared with those from two patients with do

NovelCLCN1mutations in Taiwanese patient

NovelCLCN1mutations in Taiwanese patients with myotonia congenita

✍ Shuo-Bin Jou; Ling-I Chang; Huichin Pan; Pei-Ru Chen; Kuang-Ming Hsiao 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 269 KB

Fenoterol precipitating myotonia in a mi

Fenoterol precipitating myotonia in a minimally affected case of recessive myotonia congenita

✍ K. Ricker; A. Haass; F. Glötzner 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 180 KB

Fenoterol is used in patients with premature labor to delay delivery. A young women treated with fenoterol developed severe generalized myotonia. Symptoms disappeared after medication had been stopped. In a later study myotonic discharges were found electromyographically in the muscles of the patien

Transient muscular weakness in severe re

Transient muscular weakness in severe recessive myotonia congenita

✍ K. Ricker; A. Haass; G. Hertel; H. G. Mertens 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 670 KB

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