Myotonic Dystrophy Type 2: An Update on Clinical Aspects, …
Common and specific postulated pathological mechanisms underlying myotonic dystrophy type 1 and type 2. An open question in the field of DM is to clarify the pathomechanism underlying …
Myotonic Dystrophies 1 and 2: Complex Diseases with Complex Mechanisms …
Two multi-system disorders, Myotonic Dystrophies type 1 and type 2 (DM1 and DM2), are complex neuromuscular diseases caused by an accumulation of expanded, non-coding RNAs, …
Myotonic Dystrophy - StatPearls - NCBI Bookshelf
Jun 26, 2023 · There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic …
Myotonic dystrophy types 1 and 2 - PubMed
The pathogenic mechanism of DM1 and DM2 is thought to be mediated by the mutant RNA transcripts containing expanded CUG and CCUG repeats. Strong evidence supports the …
Myotonic dystrophies: An update on clinical aspects, genetic, …
Apr 1, 2015 · Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n …
Myotonic dystrophies: an update on clinical features, molecular ...
Dec 7, 2024 · This comprehensive update review has elucidated various aspects of Myotonic Dystrophy type 1 and type 2, ranging from genetic mechanisms and molecular diagnostics to …
Myotonic dystrophy: Emerging mechanisms for DM1 and DM2
Feb 1, 2007 · Myotonic dystrophy type 2 (DM2) is caused by an unstable CCTG repeat in intron 1 of ZNF9 (zinc finger protein 9) on chromosome 3q21. Therefore, both DM1 and DM2 are …
Myotonic Dystrophies Type 1 and 2: A Summary on Current Aspects
Jun 1, 2006 · Without a distinctive combination of clinical symptoms or a noninformative family history, several other congenital neuromuscular disorders should be taken into account, as …
Myotonic Dystrophy Type 1 and Type 2 | SpringerLink
Myotonic dystrophy (dystrophia myotonica, DM) is the most common inherited muscular dystrophy in adults. DM1 and DM2 show similarities in their clinical features including progressive …
Myotonic Dystrophy: Disease Mechanism
Dec 17, 2024 · For individuals with myotonic dystrophy type 2, the expanded CCTG repeat is found in the CNBP gene. Individuals with mild or late onset DM1 typically have a CTG length …