Congenital muscular dystrophies

Useful Links

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

References

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)

Publications

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)

Revision history

This material was produced by Carmen Paradas López, MD, PhD, at the Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (Spain). Additional support was provided by Avril Palmeri, John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne (UK). 

The material has been reviewed by Ildefonso de la Cruz Romero and Carlos Capitan Agudo.