Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos
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چکیده
منابع مشابه
Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course.
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 clinical aspects of the atypical form presented by our patient, the efficacy of the more available drugs employed for the treatment of myotonia conge...
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The authors report no conflicts of interest. AbstrAct Dent’s disease type 1 is an X-linked tubular disease caused by mutations in the renal chloride channel CLCN-5, and it is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and renal failure. Several cases have been described in which the only presenting symptoms were asymptomatic proteinuria, and focal segme...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 1995
ISSN: 0004-282X
DOI: 10.1590/s0004-282x1995000100017