Presentation
In the second part of the project we performed a deep morphological analysis in our cohort of more than 100 patients presenting a congenital myopathy and we identified homogeneous cohorts of patients presenting neonatal or antenatal onset congenital myopathies [theses.fr]
Resumo: El desarrollo de las técnicas para el estudio histopatológico de la biopsia muscular ha permitido por primera vez en el país diagnosticar una miopatía nemalínica en una niña de 2 años y 10 meses de edad, portadora de una afección muscular presente [bibliomed.com.br]
Treatment
There is no specific treatment for these conditions. The congenital myopathies with protein aggregates are a subgroup of congenital myopathies characterized by aggregations of proteins in muscle. [theses.fr]
Pathophysiology
- Morphological analysis and investigation of pathophysiological mechanisms underlying the appearance of the protein aggregates in patients with RBM and other phenotype associated with mutation in the FHL1 gene. 2. - Clinical and morphological characterisation [theses.fr]