Congenital myotonic dystrophy: An overlooked diagnosis not amenable to detection by sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6105
Abstract: To increase the clinical awareness of the need for genetic evaluation for congenital myotonic dystrophy (CDM1) in cases of fetal akinesia sequence and idiopathic polyhydramnios. read more here.
Keywords: myotonic dystrophy; dystrophy overlooked; congenital myotonic; overlooked diagnosis ... See more keywords
Aberrant Myokine Signaling in Congenital Myotonic Dystrophy.
Sign Up to like & getrecommendations! Published in 2017 at "Cell reports"
DOI: 10.1016/j.celrep.2017.10.018
Abstract: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively. Although both disorders are clinically similar, congenital myotonic dystrophy… read more here.
Keywords: myokine signaling; dystrophy; cdm; myotonic dystrophy ... See more keywords