Gutiérrez Rivas, Eduardo
Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. [artículo] - Journal of Neurology, 2012 - 259(8):1546-52.
Formato Vancouver:
Tondo M, Gámez J, Gutiérrez-Rivas E, Médel-Jiménez R, Martorell L. Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. J Neurol. 2012 Aug;259(8):1546-52.
PMID: 22231868
Contiene 16 referencias
Oculopharyngeal muscular dystrophy is an
autosomal dominant adult-onset disease with several clinical
features. The genetic cause is an expanded (GCN)n
mutation coding for polyalanine. Severity and the age of
onset are variable and may depend on the size of the
unstable triplet. Our objectives were to correlate the
genotypic and phenotypic features in 34 affected patients,
and to complete the molecular analysis for a control
Spanish population in order to confirm the (GCN)n polymorphism
frequency observed in other populations. We
found a correlation between impaired CPK levels and sex.
No statistical differences were found when comparing the
length in triplet expansion and other variables. The (GCN)n
polymorphism’s frequency observed in other countries
could not be proven in ours. Moreover, no correlation was
observed amongst the size of the mutation, the age of onset,
and the phenotype. This fact suggests that other conditions
apart from the already known genotype could influence the
age of onset and the severity of the symptoms.
Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. [artículo] - Journal of Neurology, 2012 - 259(8):1546-52.
Formato Vancouver:
Tondo M, Gámez J, Gutiérrez-Rivas E, Médel-Jiménez R, Martorell L. Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. J Neurol. 2012 Aug;259(8):1546-52.
PMID: 22231868
Contiene 16 referencias
Oculopharyngeal muscular dystrophy is an
autosomal dominant adult-onset disease with several clinical
features. The genetic cause is an expanded (GCN)n
mutation coding for polyalanine. Severity and the age of
onset are variable and may depend on the size of the
unstable triplet. Our objectives were to correlate the
genotypic and phenotypic features in 34 affected patients,
and to complete the molecular analysis for a control
Spanish population in order to confirm the (GCN)n polymorphism
frequency observed in other populations. We
found a correlation between impaired CPK levels and sex.
No statistical differences were found when comparing the
length in triplet expansion and other variables. The (GCN)n
polymorphism’s frequency observed in other countries
could not be proven in ours. Moreover, no correlation was
observed amongst the size of the mutation, the age of onset,
and the phenotype. This fact suggests that other conditions
apart from the already known genotype could influence the
age of onset and the severity of the symptoms.
