| Grant number: | 10/08902-5 |
| Support Opportunities: | Regular Research Grants |
| Start date: | September 01, 2010 |
| End date: | February 28, 2013 |
| Field of knowledge: | Health Sciences - Medicine - Medical Clinics |
| Principal Investigator: | Umbertina Conti Reed |
| Grantee: | Umbertina Conti Reed |
| Host Institution: | Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil |
| Associated researchers: | Edmar Zanoteli |
Abstract
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies manifesting during the first year of life, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. Many genes have been already identified, and almost 50% of the cases are caused by primary deficiency of laminin ±-2 (merosin). Other well characterized protein deficiencies include collagen VI, selenoprotein N1, lamin A/C, and many glycosiltransferases responsible for glycosylation of the ±-dystroglycan, including the FKRP (fukutin related protein). The objective of this study is to identify patients with deficiency of lamin A/C and FKRP into a group of DMC patients without specific diagnosis, and to describe the clinical, histological and molecular aspects of these patients. Mutation analysis of the genes LMNA and FKRP will be performed by PCR/SSCP assay and sequencing of the genes, in association with clinical/neurological assessment of the patients and histological description of the muscle biopsy. The phenotypic characterization of the different forms of DMC certainly will contribute to the therapeutic planning and the molecular diagnosis of the disease. (AU)
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