Results 1 to 10 of about 15,812 (184)
Nondystrophic myotonic disorders: Cases from India [PDF]
Annals of Indian Academy of Neurology, 2021 Rahul T Chakor, Neelam S Patil
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Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders [PDF]
Frontiers in Neurology, 2020 Introduction: Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited.
Alayne P. Meyer +6 more
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Myotonic disorders and pregnancy. [PDF]
Obstet Med, 2020 Myotonic disorders represent significant risk in pregnancy due to their complexity and the risk of maternal and fetal complications. Care of these pregnancies requires detailed pre-conception counselling, close monitoring of mother and fetus during the pregnancy and a delivery and postpartum plan involving a multidisciplinary team approach.
Morton A.
europepmc +5 more sources
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. [PDF]
PLoS Genetics, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
Johann Böhm +12 more
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Myotonic disorders: A review article. [PDF]
Iran J Neurol, 2016 The myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. The presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (MC), to severe disability ...
Hahn C, Salajegheh MK.
europepmc +2 more sources
Congenital Myotonic Dystrophy in the Neonatal Period -
Listy klinicke logopedie, 2023 Congenital myotonic dystrophy is the most severe form of myotonic dystrophy type 1 (DM1), an autosomal dominant multisystem disorder. Myotonic dystrophies are primarily degenerative, genetically determined and progressive disorders of skeletal and smooth
Barbora Červenková
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Combined spinal-epidural anesthesia in a patient with spinal muscular atrophy type II undergoing cesarean section: A case report [PDF]
Vojnosanitetski Pregled, 2020 Introduction. Anesthetic management of a patient with spinal muscular atrophy type II, who underwent elective cesarean section with neuraxial anesthesia is presented in this case report. Case report.
Krušić Slavica +2 more
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Cutaneous findings in myotonic dystrophyCapsule Summary
JAAD International, 2022 Myotonic dystrophy types 1 and 2 are a group of complex genetic disorders resulting from the expansion of (CTG)n nucleotide repeats in the DMPK gene. In addition to the hallmark manifestations of myotonia and skeletal muscle atrophy, myotonic dystrophy ...
Ha Eun Kong, MD, PhD +1 more
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DNA methylation and trinucleotide repeat expansion diseases [PDF]
, 2012 Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
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Fundus flavimaculatus-like in myotonic dystrophy: a case report
BMC Ophthalmology, 2021 Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye.
Eric Kirkegaard-Biosca +5 more
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