WordNet

abnormally long muscular contractions; slow relaxation of a muscle after a contraction

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LaDonna KA1, Ghavanini AA2, Venance SL3.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques.Can J Neurol Sci.2015 May;42(3):187-94. doi: 10.1017/cjn.2015.26. Epub 2015 Apr 13.
BACKGROUND: Myotonic dystrophy (DM1) is an autosomal dominant, progressive, and multisystem condition that impacts affected individuals physically, socially, and emotionally. Understanding individuals' perceptions of their disease is critical to ensuring appropriate information, education, and couns
PMID 25867706

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

Morales F1, Vásquez M2, Cuenca P1, Campos D3, Santamaría C4, Del Valle G5, Brian R6, Sittenfeld M7, Monckton DG8.
European journal of human genetics : EJHG.Eur J Hum Genet.2015 May;23(5):646-53. doi: 10.1038/ejhg.2014.138. Epub 2014 Jul 23.
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated alleles are highly unstable in both the germline and soma. Germline instabi
PMID 25052313

Papadimas GK1, Kekou K, Papadopoulos C, Kararizou E, Kanavakis E, Manta P.
Muscle & nerve.Muscle Nerve.2015 May;51(5):686-91. doi: 10.1002/mus.24440. Epub 2015 Mar 31.
INTRODUCTION: Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene.METHODS: We studied the first 16 Greek DM2 patients who had undergone thorough evaluation.RESULTS: The age at diagnosis ranged from 38 to 69 years. The
PMID 25186227