Distrofias musculares congénitas

Enlaces útiles

https://treat-nmd.org/treat-nmd-diseases/congenital-muscular-dystrophies/

https://www.mda.org/disease/congenital-muscular-dystrophy

https://www.curecmd.org/

https://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/

http://www.musculardystrophyuk.org/assets/0001/6443/Congenital_muscular_dystrophies.pdf

Referencias

¹Carsten G.Bönnemann et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disorders 24 (2014) 289-311

(https://www.sciencedirect.com/science/article/pii/S0960896614000029?via%3Dihub)

²Anthony Blaeser et al. Third International Workshop for Glycosylation Defects in Muscular Dystrophies,18–19 April 2013, Charlotte, USA. Brain Pathology 

(https://onlinelibrary.wiley.com/doi/full/10.1111/bpa.12118)

³Eugenio Mercuri  et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscular Disorders 15 (2005) 303–310

(https://www.nmd-journal.com/article/S0960-8966(05)00024-6/fulltext)

Publicaciones

Second International Workshop for Glycosylation Defects in Muscular Dystrophies, 11–12 November, 2010, Charlotte, USA (https://onlinelibrary.wiley.com/doi/full/10.1111/j.1750-3639.2011.00494.x)

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue (https://academic.oup.com/brain/article/132/1/147/287917)

Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy (https://www.sciencedirect.com/science/article/pii/S0002929707606971?via%3Dihub)

The collagen VI-related myopathies: muscle meets its matrix (https://www.nature.com/articles/nrneurol.2011.81)

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy (https://www.sciencedirect.com/science/article/pii/S0960896605000246?via%3Dihub)

ColVI myopathies: where do we stand, where do we go? (https://skeletalmusclejournal.biomedcentral.com/articles/10.1186/2044-5040-1-30)

Historial de revisión

Este material ha sido producido por la Dra. Carmen Paradas López en el Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (Spain). Avril Palmeri, Centro de Investigación de Distrofia Muscular John Walton, brindó apoyo adicional.

El material fue revisado por Ildefonso de la Cruz Romero and Carlos Capitan Agudo.