A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation.
Indian J Pediatr
;
2008 Jun; 75(6): 632-4
Artículo
en Inglés
| IMSEAR
| ID: sea-81513
ABSTRACT
An offspring of marriage between two first cousins presented with atonic seizures developed on the 20(th) day of life. The physical examination of the case was normal. In laboratory results, Ca(+2) level was 5.7 mg/dl, Mg(+2) 0.4 mg/dl (1,3-2,1), PTH 28.4 pg/ml (12-92), and P- 4.5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Linaje
/
Convulsiones
/
Humanos
/
Masculino
/
Análisis Mutacional de ADN
/
Calcio
/
Análisis de Secuencia de ADN
/
Canales Catiónicos TRPM
/
Hipocalcemia
/
Lactante
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2008
Tipo del documento:
Artículo
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