Results 191 to 200 of about 33,763 (228)

Managing Myotonic Dystrophy Type 1 Complicated by Metabolic Syndrome. [PDF]

JACC Case Rep
Pagnoni G, Nassar A, Grossule F, Paolini M, Maini A, Mattioli AV, Boriani G, Coppi F.   +7 more
europepmc   +1 more source

The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion. [PDF]

Postep Psychiatr Neurol
Finsterer J.
europepmc   +1 more source

Investigating the presence of Fuchs endothelial corneal dystrophy in patients with myotonic dystrophy, type 1

, 2017
Nelson S. Winkler, Margherita Milone, Harish Raja, Ross A. Aleff, Sanjay V. Patel, Michael P. Fautsch, Eric D. Wieben, Keith H. Baratz   +7 more
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Myotonic Dystrophy

Continuum, 2022
Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs. The multisystem involvement and disease variability of myotonic dystrophy have presented challenges for clinical care and research.
openaire   +2 more sources

Myotonic Dystrophy

Neurologic Clinics, 1988
Myotonic dystrophy is an autosomal dominant disorder that results in skeletal muscle weakness and wasting, myotonia, and numerous nonmuscular manifestations including frontal balding, cataracts, gonadal dysfunction, cardiac conduction abnormalities, respiratory insufficiency, and hypersomnolence.
R F, Jozefowicz, R C, Griggs
openaire   +2 more sources

Myotonic Dystrophy and Myotonic Dystrophy Protein Kinase

Progress in Histochemistry and Cytochemistry, 2000
Myotonic dystrophy protein kinase (DMPK) was designated as a gene responsible for myotonic dystrophy (DM) on chromosome 19, because the gene product has extensive homology to protein kinase catalytic domains. DM is the most common disease with multisystem disorders among muscular dystrophies.
H, Ueda, S, Ohno, T, Kobayashi
openaire   +2 more sources