FACTORS ASSOCIATED WITH HEALTH-RELATED QUALITY OF LIFE IN CHILDREN WITH CONGENITAL MYOTONIC DYSTROPHY

BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder that results from a CTG trinucleotide repeat in the DMPK gene. Congenital myotonic dystrophy (CDM) is the most severe form of DM1, and patients with CDM are reported to have reduced health-related quality of life (HRQoL)....

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Pubblicato in:Paediatr Child Health
Autori principali: Rogers, S, Hicks, R, Bax, K, Ceballos-Saenz, D, El-Aloul, B, Dibella, D, Pucillo, E, Johnson, N, Campbell, C, Zapata-Aldana, E
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5804561/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/pch/pxx086.068
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