Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant [artículo]
Por: García-Consuegra Galiana, Inés [Instituto de Investigación i+12]
| Martín Casanueva, Miguel Ángel [Bioquímica Clínica].
Colaborador(es): Instituto de Investigación imas12.
Editor: Journal of Child Neurology, 2011Descripción: 26(6):734-737.Recursos en línea: Solicitar documento Resumen: The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain, occasionally rhabdomyolysis, and idiopathic hyperCKemia. However, previous to the introduction of molecular techniques, rare cases with congenital weakness and hypotonia have also been reported. We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate deaminase, and the homozygous C to T mutation at nucleotide 34 of the adenosine monophosphate deaminase-1 gene. This observation indicates the possible existence of a primary adenosine monophosphate deaminase deficiency manifested by congenital muscle weakness and hypotonia.
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Artículo
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Formato Vancouver:
Castro-Gago M, Gómez-Lado C, Pérez-Gay L, Eirís-Puñal J, Martínez EP, García-Consuegra I, et al. Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant. J Child Neurol. 2011;26(6):734-7.
PMID: 21343608
Contiene 20 referencias
The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain, occasionally rhabdomyolysis, and idiopathic hyperCKemia. However, previous to the introduction of molecular techniques, rare cases with congenital weakness and hypotonia have also been reported. We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate deaminase, and the homozygous C to T mutation at nucleotide 34 of the adenosine monophosphate deaminase-1 gene. This observation indicates the possible existence of a primary adenosine monophosphate deaminase deficiency manifested by congenital muscle weakness and hypotonia.
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