Myotonic Dystrophy Type 2
Last Posted: Jul 20, 2023
- Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation.
J P Sánchez Marín, et al. Neurologia 2023 0
- Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution.
Murillo-Melo N M, et al. Neuromuscular disorders : NMD 2017 0 (12) 1106-1114
- Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1.
Corrales Eyleen, et al. PloS one 2019 0 (5) e0216407
- MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.
Flower Michael, et al. Brain : a journal of neurology 2019 0 (7) 1876-86
- Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.
Morales Fernando, et al. Human molecular genetics 2020 0 (15) 2496-2507
- Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.
Joosten Isis B T, et al. European journal of human genetics : EJHG 2020 0 (7) 956-962
- Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration.
Jimenez-Marin Antonio, et al. Neuropathology and applied neurobiology 2021 0 (7) 1092-1108
- Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye.
Smits Bart W, et al. Neuromuscular disorders : NMD 2011 0 (4) 272-8
- Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
Coenen Marieke J H, et al. European journal of human genetics : EJHG 2011 0 (5) 567-70
- Proximal myotonic myopathy: a syndrome with a favourable prognosis?
Meola Giovanni, et al. Journal of the neurological sciences 2002 0 (2) 89-96
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