Výsledky vyhledávání - "Miotonia Congênita"

Akademický článek

Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos

Autor: Umbertina C. Reed, Suely K. Nagahashi Marie, Mario Wilson I. Brotto, Carlos Alberto Martinez, Paulo E. Marchiori, Aron Diament, José Antonio Levy

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 53, Iss 1, Pp 114-117 (1995)

We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the cl

Externí odkaz: https://doaj.org/article/3b5b3778a8c54673a213a94a0f8b52c3

Zobrazit plný text záznamu

Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia

Autor: Fernández, Estrella, Latasiewicz, Marta, Pelegrin, Laura, Romera, Manuel, Schellini, Silvana, Galindo-Ferreiro, Alicia

Publikováno v: Arquivos Brasileiros de Oftalmologia, Volume: 80, Issue: 5, Pages: 330-331, Published: OCT 2017

A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the prev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::080bb2274847dcc8019d4a4df9e17b80
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000500015&lng=en&tlng=en

Zobrazit plný text záznamu

Miotonia congênita não distrófica autossômica recessiva

Autor: Suely Kazue Nagahashi Marie, Aron J. Diament, Umbertina Conti Reed, Carlos Alberto Martinez, José Antonio Levy, Mario Wilson Iervolino Brotto, Paulo E. Marchiori

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 53, Issue: 1, Pages: 114-117, Published: MAR 1995
Arquivos de Neuro-Psiquiatria v.53 n.1 1995
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Vol 53, Iss 1, Pp 114-117 (1995)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a89b98d19c12b2130a60a67d8d14fa8
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1995000100017&lng=en&tlng=en

Zobrazit plný text záznamu

Myotonia congenita and myoadenylate deaminase deficiency: case report

Autor: Scola, Rosana Herminia, Iwamoto, Fabio Massaiti, Camargo, Carlos Henrique, Arruda, Walter Oleschko, Werneck, Lineu Cesar

Publikováno v: Arquivos de Neuro-Psiquiatria, Volume: 61, Issue: 2A, Pages: 262-264, Published: JUN 2003

Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::8569568d36b939004c7c9450deacfa49
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000200019&lng=en&tlng=en

Zobrazit plný text záznamu

Heart Transplantation in Becker Muscular Dystrophy Patient: Case-Report of a 15-Year Follow-up

Autor: Marcio Madeira, Ranchordás, Sara, Nolasco, Tiago, Marques, Marta, Rebocho, Maria José, Neves, José

Publikováno v: BASE-Bielefeld Academic Search Engine
CIÊNCIAVITAE
International Journal of Cardiovascular Sciences v.31 n.1 2018
International Journal of Cardiovascular Sciences
Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
International Journal of Cardiovascular Sciences, Volume: 31, Issue: 1, Pages: 82-84, Published: FEB 2018

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::065754738d271bd45bbd7d3523ab8727
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472018000100082

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání