✦ LIBER ✦

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

✍ Scribed by K. Ricker; A. Haass; F. Glötzner

Publisher: Springer
Year: 1978
Tongue: English
Weight: 180 KB
Volume: 219
Category: Article
ISSN: 0340-5354
DOI: 10.1007/bf00312981

No coin nor oath required. For personal study only.

✦ Synopsis

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 patient and her brother. Both suffered from subclinical recessive myotonia congenita (Becker). A heterozygous manifestation may be supposed.

📜 SIMILAR VOLUMES

Case-of-the-month: Autosomal recessive m

Case-of-the-month: Autosomal recessive myotonia congenita: Marked muscle weakness in a 16-year-old boy

✍ Robert G. Miller; Fritz Buchthal 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 541 KB

Identification of five new mutations and

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita

✍ F Sangiuolo; A Botta; A Mesoraca; S Servidei; L Merlini; G Fratta; G Novelli; B 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 143 KB 👁 2 views

Autosomal dominant myotonia congenita or Thomsen's disease (OMIM\* 160800) and autosomal recessive myotonia congenita or Becker's (OMIM\* 255700) are rare nondystrophic disorders due to allelic mutations of the muscle chloride channel gene, CLCN1. We have analysed all 24 exons of the CLCN1 gene, in