Number of the records: 1
dystrofia myotonická
Record number d009223 Date 06.06.2025 Type M - MESH Topical term dystrofia myotonická Other term English (Pseudonym) Dystrophia Myotonica
English (Pseudonym) Myotonic Dystrophy, Congenital
English (Pseudonym) Myotonic Myopathy, Proximal
English (Pseudonym) Steinert Disease
Slovak (Pseudonym) dystrophia myotonica
Slovak (Pseudonym) Steinertova choroba
Slovak (Pseudonym) dystrofia myotonická kongenitálna
Slovak (Pseudonym) dystrofia myotonická vrodená
Slovak (Pseudonym) myotonia atrophica
Slovak (Pseudonym) myopatia myotonická proximálna
Slovak (Pseudonym) Rickerov syndróm
See also (Skutočné meno) expanzia trinukleotidových repetícií
(Skutočné meno) expanzia repetícií DNA
(Skutočné meno) myotonín proteínkináza
(Later heading) expanzia trinukleotidových repetícií
(Later heading) myotonín proteínkináza
UDC C05.651.534.500.500C05.651.662.750C10.574.500.547C10.668.491.175.500.500C10.668.491.606.750C16.320.400.542C16.320.577.500 Note Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. 
subject heading
Number of the records: 1