Results 61 to 70 of about 33,763 (228)
A pedigree with myotonic dystrophy: electrophysiological and genetic characteristics
Chinese Journal of Contemporary Neurology and NeurosurgeryObjective To summarize the clinical, electrophysiological and genetic characteristics of a pedigree with myotonic dystrophy (DM). Methods and Results The 25-year-old male proband exhibited an occult onset, characterized by a distinctive "hatchet face ...
HUANG Jing +5 more
doaj +1 more source
Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1) [PDF]
, 2014 Background : Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic multisystem disorder and the commonest adult-onset form of muscular dystrophy. DM1 results from the expansion of an unstable trinucleotide cytosine-thymine-guanine (CTG) repeat
Jean, Stéphane +3 more
core +2 more sources
Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? [PDF]
, 2016 Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles.
Denning, Chris +2 more
core +4 more sources
The C9ORF72 mutation brings more answers and more questions. [PDF]
, 2013 The clinical, neuropsychiatric and neuroimaging features of patients who carry the important new C9ORF72 mutation are discussed in this special series of Alzheimer's Research & Therapy.
Miller, Bruce L
core +1 more source
Journal of Medical Genetics, 2002 As with the second edition of this book, published back in 1989, this third edition is an excellent account of clinical and scientific aspects of myotonic dystrophy. The book is easy to read, sustaining this reviewer’s attention to scan the whole book in a single sitting, while subsequently being of value as a reference for closer consultation on ...
openaire +1 more source
IDMC-6 - The Sixth International Myotonic Dystrophy Consortium Meeting
European Journal of Histochemistry, 2009 In 1992 three groups of investigators found that myotonic dystrophy of Steinert, classical myotonic dystrophy, now known as myotonic dystrophy type 1 (DM1), results from an unstable CTG repeat expansion in the non-coding 3’ region of serinethreonine ...
G Meola
doaj +1 more source
Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1
BMC Neurology, 2022 Background Although functional impairment in patients with myotonic dystrophy is an important determinant of the quality of life (QoL), patients’ subjective evaluation of their symptoms may also affect their QoL.
Haruo Fujino +6 more
doaj +1 more source
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source
Pattern Dystrophy of the Macula in a Case of Steinert Disease
Case Reports in Ophthalmology, 2013 Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.
Filipe Esteves +4 more
doaj +1 more source