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Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos H...

Introduction Limb-girdle muscular dystrophies (LGMDs) are a hetero¬geneous group of muscle diseases. Autosomal dominant (LGMD1) and recessive (LGMD2) forms are recognized, each one with several subtypes. In Portugal there are no studies reporting the relative distribution of the different subtypes of LGMD2. Objective To determine the subtypes of LGMD2 diagnosed and their relative distribution at the Neurology ...

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome pa...

A significant different allelic distribution, in Gilbert patients and in controls, was found for two promoter polymorphisms. Among patients, 82.2% were homozygous and 17.8% heterozygous for the c.− 41_ − 40dupTA allele; in control group, 9.9% were homozygous and 43.5% heterozygous for this promoter variant, while 46.6% (n = 75) presented the [A(TA)6TAA]. For the T>G transition at c.− 3279 promoter region, in pa...

Variação Inter-Individual nos Níveis de Bilirrubina: O papel de Factores Genéti...

Variação Inter-Individual nos Níveis de Bilirrubina: O papel de Factores Genéti...

Migration of an ancestral dysferlin splicing mutation from the Iberian peninsul...

Miyoshi myopathy, LGMD2B and DMAT are primary dysferlinopathies that belong to a group of muscular dystrophies inherited in an autosomal recessive mode. Additional presentations range from isolated hyperCKemia to severe functional disability. LGMD2B involves predominantly the proximal muscles of the lower limbs whereas in Miyoshi myopathy the muscles involved are those of the posterior muscle compartment of the...

Molecular profile of 307 Portuguese patients with dystrophinopathy, including t...

Mutations in the dystrophin gene (DMD) give rise to the allelic Duchenne or Becker muscular dystrophies. Besides providing a differential diagnosis for adequate clinical follow-up and management, the molecular characterization of these patients is becoming increasingly important in light of the recent and promising mutation-based therapeutic approaches. Due to the size and complexity of DMD, as well as the dive...

Anoctamin 5: A New Candidate Gene For Portuguese Patients With Adult Onset Limb...

Introduction: The limb-girdle muscular dystrophies (LGMDs) show wide genetic and clinical heterogeneity. Recessive mutations in the ANO5 gene, which encodes a putative calcium-activated chloride channel of the anoctamin family, have been recently identified in families with LGMD type 2L and non-dysferlin distal muscular dystrophy (MMD3). The LGMD2L phenotype is characterized by proximal weakness, with prominent...

Prediction of deleterious nsSNPs in human UGT1A1 gene by web available algorith...

Variação inter-individual nos níveis de bilirrubina: o papel dos factores genét...

A bilirrubina é um pigmento biliar que deriva principalmente do catabolismo da hemoglobina. É um marcador bioquímico de doenças hepáticas e hematológicas e tem vindo a ser alvo de interesse devido à sua capacidade antioxidante. O objectivo deste trabalho foi avaliar a contribuição de vários factores para a variação da concentração da bilirrubina sérica na população portuguesa. Foi analisado o contributo dos pol...

Variação inter-individual nos níveis de bilirrubina: o papel dos factores genét...

A bilirrubina é um pigmento biliar que deriva principalmente do catabolismo da hemoglobina. É um marcador bioquímico de doenças hepáticas e hematológicas e tem vindo a ser alvo de interesse devido à sua capacidade antioxidante. O objectivo deste trabalho foi avaliar a contribuição de vários factores para a variação da concentração da bilirrubina sérica na população portuguesa. Foi analisado o contributo dos pol...