Total intravenous anesthesia in a 10-month-old patient with congenital myotonic dystrophy undergoing endoscopic third ventriculostomy -A case report- [PDF]
Korean Journal of Anesthesiology, 2012 Myotonic dystrophy is a rare genetic disorder characterized by muscle atrophy and weakness. Surgical treatment of this condition poses various problems for the anesthesiologist.
Jung Hwa Joh +5 more
doaj +1 more source
Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]
, 2016 Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly +7 more
core +2 more sources
PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
Revista Paulista de Pediatria, 2020 Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with ...
Patrícia Sofia Ferreira Miranda +5 more
doaj +2 more sources
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2 [PDF]
, 2018 Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by abnormally expanded stretches of CTG DNA triplets in the DMPK gene, leading to mutated-transcript RNA-toxicity.
Cappella, Marisa +11 more
core +2 more sources
Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility [PDF]
, 2006 Although cataract is a characteristic feature of myotonic dystrophy type 1 (DM1), little is known of the underlying mechanisms. We generated four lens epithelial cell lines derived from DM1 cataracts and two from age-matched, non-DM cataracts. Small-pool
Abe +40 more
core +2 more sources
Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients [PDF]
Investigative Opthalmology & Visual Science, 2017 n ...
De Bernardo, Maddalena, Rosa, Nicola
openaire +3 more sources
Case Reports in Gastroenterology, 2010 Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance.
Rishi R. Bhardwaj, Andrea Duchini
doaj +1 more source
JA Clinical Reports, 2020 Background Myotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient who developed respiratory failure, with delayed diagnosis of myotonic dystrophy type 1 as the cause ...
Noriaki Nishihara +3 more
doaj +1 more source
Frontiers in Neurology, 2021 Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, and is primarily characterized by muscle weakness and myotonia, yet some of the most disabling symptoms of the disease are cognitive and behavioral.
Jacob N. Miller +10 more
doaj +1 more source
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 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 ...
A Buj-Bello +58 more
core +7 more sources