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Excessive fragmentary myoclonus in Machado-Joseph disease.
dos Santos DF, Pedroso JL, Braga-Neto P, Silva GM, de Carvalho LB, Prado LB, Barsottini OG, do Prado GF. dos Santos DF, et al. Sleep Med. 2014 Mar;15(3):355-8. doi: 10.1016/j.sleep.2013.09.025. Epub 2014 Jan 18. Sleep Med. 2014. PMID: 24518960
Lifetime, untreated isolated GH deficiency due to a GH-releasing hormone receptor mutation has beneficial consequences on bone status in older individuals, and does not influence their abdominal aorta calcification.
Souza AH, Farias MI, Salvatori R, Silva GM, Santana JA, Pereira FA, de Paula FJ, Valença EH, Melo EV, Barbosa RA, Pereira RM, Gois-Junior MB, Aguiar-Oliveira MH. Souza AH, et al. Endocrine. 2014 Sep;47(1):191-7. doi: 10.1007/s12020-013-0118-5. Epub 2013 Nov 23. Endocrine. 2014. PMID: 24272598
Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone.
Epitácio-Pereira CC, Silva GM, Salvatori R, Santana JA, Pereira FA, Gois-Junior MB, Britto AV, Oliveira CR, Souza AH, Santos EG, Campos VC, Pereira RM, Valença EH, Barbosa RA, Farias MI, de Paula FJ, Ribeiro TV, Oliveira MC, Aguiar-Oliveira MH. Epitácio-Pereira CC, et al. J Clin Endocrinol Metab. 2013 Nov;98(11):E1710-5. doi: 10.1210/jc.2013-2349. Epub 2013 Sep 20. J Clin Endocrinol Metab. 2013. PMID: 24057284
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