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Autosomal recessive generalized myotonia

✍ Scribed by Dr. H. Zellweger; Dr. L. Pavone; A. Biondi; V. Cimino; Dr. F. Gullotta; Dr. M. Hart; Dr. V. Ionasescu; Dr. F. Mollica; Dr. R. Schieken

Book ID: 102954892
Publisher: John Wiley and Sons
Year: 1980
Tongue: English
Weight: 526 KB
Volume: 3
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.880030212

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📜 SIMILAR VOLUMES

✍ Dr. Sallie F. Sun; Erich W. Streib 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 561 KB

## 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

Autosomal recessive myotonia congenita i

Autosomal recessive myotonia congenita in sheep

✍ GA Moore; KR Dyer; RM Dyer; DP Sponenberg 📂 Article 📅 1997 🏛 BioMed Central 🌐 French ⚖ 438 KB

Heterozygote manifestation in recessive

Heterozygote manifestation in recessive generalized myotonia

✍ P. E. Becker 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 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

The autosomal recessive (Becker) form of

The autosomal recessive (Becker) form of myotonia congenita

✍ Dr S. Erich Kuhn; Dr. Walter Fiehn; Dr. Dieter Seiler; Dr. Joachim-Michael Schrö 📂 Article 📅 1979 🏛 John Wiley and Sons 🌐 English ⚖ 752 KB

Novel chloride channel gene mutations in

Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia

✍ Ryogen Sasaki; Hidenori Ichiyasu; Nobuo Ito; Teruaki Ikeda; Hiroki Takano; Takes 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 387 KB

Successful treatment with tocainide of r

Successful treatment with tocainide of recessive generalized congenital myotonia

✍ Dr Erich W. Streib 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 354 KB