Results 51 to 60 of about 2,290 (109)

A couple of the first cousins born with hypotonia and maternal polyhydramnios

Clinical Case Reports
Key Clinical Message Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf   +2 more
doaj   +1 more source

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Balkan Journal of Medical Genetics, 2018
Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association
Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M   +4 more
doaj   +1 more source

Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation

EBioMedicine, 2015
Loss of Muscleblind-like 1 (Mbnl1) is known to alter Clc-1 splicing to result in myotonia. Mbnl1ΔE3/ΔE3/Mbnl3ΔE2 mice, depleted of Mbnl1 and Mbnl3, demonstrate a profound enhancement of myotonia and an increase in the number of muscle fibers with very ...
Jongkyu Choi, Kirkwood E. Personius, Marino DiFranco, Warunee Dansithong, Carl Yu, Saumya Srivastava, Donald M. Dixon, Darshan B. Bhatt, Lucio Comai, Julio L. Vergara, Sita Reddy   +10 more
doaj   +1 more source

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Frontiers in Neurology, 2020
The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia, Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon   +6 more
doaj   +1 more source

Walsh & Hoyt: Myotonia

, 2005
Myotonia is a phenomenon in which muscle fibers have a pathologically persistent activity after a strong contraction or are continuously active when they should be relaxed.
Paul H. Phillips, MD
core  

Asymptomatic myotonia congenita unmasked by severe hypothyroidism

, 2014
Myotonia congenita is an inherited muscle disorder sustained by mutations in the skeletal muscle chloride channel gene CLCN1. Symptoms vary from mild to severe and generalized myotonia and worsen with cold, stressful events and hormonal fluctuations ...
E. Passeri, V.A. Sansone, C. Verdelli, S. Corbetta, M. Mendola   +4 more
core   +1 more source

Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion

Arquivos de Neuro-Psiquiatria, 2001
In myotonic dystrophy (MD), disease severity has been correlated with expansion of CTG repeats in chromosome 19. The aims of this study were to evaluate efficacy of electromyography in the diagnosis of MD, access the frequency and the characteristics of ...
Pfeilsticker Beatriz Helena Miranda, Bertuzzo Carmen Sílvia, Nucci Anamarli   +2 more
doaj  

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations

Italian Journal of Pediatrics
Background Myotonia congenita (MC) is mainly caused by variants in the CLCN1 Gene, which is characterized by having difficulty in relaxing the muscle after active contraction, known as myotonia. This study aims to investigate the clinical characteristics
Xin Wang, Shangyu Wang, Hongdan Qi, Bing Wu, Mingying He, Gang Zhang   +5 more
doaj   +1 more source

TABLE OF CONTENTS ABBREVIATIONS

, 2014
Prof. Dr. Dr. h.c.
Low Chloride Conductance Myotonia
core  

MYOTONIA AND NEUROMUSCULAR-TRANSMISSION IN THE MOUSE

, 1991
KOLTGEN D, BRINKMEIER H, Jockusch H. MYOTONIA AND NEUROMUSCULAR-TRANSMISSION IN THE MOUSE. MUSCLE & NERVE. 1991;14(8):775-780.The role of neuromuscular transmission and acetylcholine receptors in the phenotypic expression of hereditary myotonia was ...
KOLTGEN, D, BRINKMEIER, H, Jockusch, Harald   +2 more
core   +1 more source