Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy

2014 ◽  
Vol 21 (7) ◽  
pp. 1123-1126 ◽  
Author(s):  
Roya Khoshbakht ◽  
Akbar Soltanzadeh ◽  
Babak Zamani ◽  
Siyamak Abdi ◽  
Kourosh Gharagozli ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Muscle Weakness ◽  
Electrophysiological Findings ◽  
Ctg Expansion

scholarly journals Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel

2011 ◽  
Vol 21 (6) ◽  
pp. 1312-1324 ◽  
Author(s):  
Zhen Zhi Tang ◽  
Viktor Yarotskyy ◽  
Lan Wei ◽  
Krzysztof Sobczak ◽  
Masayuki Nakamori ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Myotonic Dystrophy ◽  
Muscle Weakness

Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients

1998 ◽  
Vol 19 (2) ◽  
pp. 75-80 ◽  
Author(s):  
M. Marcon ◽  
C. Briani ◽  
M. Ermani ◽  
E. Menegazzo ◽  
V. Iurilli ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Positive Correlation ◽  
Ctg Expansion

A molecular protocol for diagnosing myotonic dystrophy

1995 ◽  
Vol 41 (1) ◽  
pp. 69-72 ◽  
Author(s):  
M Guida ◽  
R S Marger ◽  
A C Papp ◽  
P J Snyder ◽  
M S Sedra ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Age Of Onset ◽  
Normal Population ◽  
Repeat Sequence ◽  
Kinase Gene ◽  
Protein Kinase Gene ◽  
Initial Polymerase Chain Reaction ◽  
Ctg Expansion ◽  
Polymerase Chain ◽  
Ctg Repeat

Abstract Myotonic dystrophy (DM) is an autosomal dominant genetic disease caused by an unstable CTG repeat sequence in the 3' untranslated region of the myotonin protein kinase gene. The CTG repeat is present 5-30 times in the normal population, whereas DM patients have CTG expansions of 50 to several thousand repeats. The age of onset of the disorder and the severity of the phenotype is roughly correlated with the size of the CTG expansion. We developed a molecular protocol for the diagnosis of DM based on an initial polymerase chain reaction screen to detect normal-sized alleles and small expansions, followed by an improved Southern protocol to detect larger expansions.

Associations between grip strength, myotonia and CTG expansion in myotonic dystrophy type 1

2017 ◽  
Vol 27 ◽  
pp. S227
Author(s):  
J. Hogrel ◽  
G. Ollivier ◽  
I. Ledoux ◽  
L. Hébert ◽  
B. Eymard ◽  
...  
Keyword(s):  
Grip Strength ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Ctg Expansion

A male with oligozoospermia and muscle weakness subsequently diagnosed with myotonic dystrophy

2015 ◽  
pp. 24-26
Author(s):  
Inge Liebaers ◽  
Willem Verpoest ◽  
Nick S. Macklon ◽  
Human M. Fatemi ◽  
Robert J. Norman ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Muscle Weakness

scholarly journals Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion

2020 ◽  
Vol 66 (4) ◽  
pp. 614-615
Author(s):  
Jee-Soo Lee ◽  
Kyung Bok Lee ◽  
Han Song ◽  
ChoongHyun Sun ◽  
Man Jin Kim ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Prenatal Test ◽  
Ctg Expansion
Sign in / Sign up

Export Citation Format

Share Document