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Atypical Phenotype in Two Patients with LAMA2 Mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...

Atypical phenotype in two patients with LAMA2 mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...

Rastreio de doentes com patologia neuromuscular (ESTUDO ENDOMUS)

"Double trouble” or digenic disorder in Complex I deficiency

Complex I (CI) deficiency is a defect of OXPHOS caused by mutations in the mitochondrial or nuclear genomes. To date disease-causing mutations have been reported in all mitochondrial-encoded subunits and 22 nuclear genes. In about 50% of the patients no mutations are found, suggesting that undiscovered factors are an important cause of disease. In this study we report a consanguineous family from Southern Portu...

Mutation spectrum and phenotypes of thirty Portuguese families with autosomal r...

A group of 65 patients, comprising 59 apparently unrelated families, were screened for mutations in the sarcoglycan (SG) genes, as well as in the CANP3 and DYSF genes. A total of 30 families(36 patients) were characterized at the molecular level and found to fall into the following groups: 4, LGMD2A; 15, LGMDC; 8, LGMD2D; 3, LGMD2E. Four new mutations were identi®ed: two in the a-SG and two in the b-SG genes. O...

Spinal epidural empyemas.

We report ten patients harbouring spinal epidural abscess, aiming to evaluate the factors that may lead to an early diagnosis and that can eventually influence the prognosis. There were seven males and 3 females, with ages comprised between 17 and 66 years. Abscesses were localised mainly in the dorsal region. The most important predisposing factors were infections or other disorders know to be related with com...

Acute polyradiculoneuritis associated with boutonneuse fever.

We have recorded three cases of Mediterranean fever harboring peripheral nerve involvement. According to the time of occurrence of the neurological symptoms, the cerebrospinal fluid analysis and electromyographic features, we admit that the peripheral nervous system can be involved in two ways in this disease. One due to the direct action of the pathogenic agent, giving place to a vasculitis. The other by an im...