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
Qualificatifs autorisés : DI / PS / IM / MI / DG / PP / RH / EN / ET / MO / EP / BL
/ CF / CI / DH / DT / TH / PX / UR / VI / VE / HI / CL / EC / EM / GE / NU / RT /
EH / PC / PA / ME / CO / SU2000(1966)
Informations sur la notice
Identifiant de la notice : 040744493
RCR créateur de la notice : 0001
Date de création : 23-09-1998
RCR dernier modificateur de la notice : 1999
Date de dernière modification : 20-03-2024 à 17 h 12