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A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

BACKGROUND: Collagen VI-related dystrophies are a subtype of congenital muscular dystrophy caused by pathogenic variants in COL6A1, COL6A2 or COL6A3 genes affecting skeletal muscles and connective tissue. The clinical phenotype ranges from the milder Bethlem myopathy to the severe Ullrich congenital...

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Detalles Bibliográficos
Autores principales:	Sirisena, Nirmala Dushyanthi, Samaranayake, U. M. Jayami Eshana, Neto, Osorio Lopes Abath, Foley, A. Reghan, Pathirana, B. A. P. Sajeewani, Neththikumara, Nilaksha, Paththinige, C. Sampath, Rathnayake, Pyara, Donkervoort, Sandra, Bönnemann, Carsten G., Dissanayake, Vajira H. W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941924/ https://www.ncbi.nlm.nih.gov/pubmed/33750322 http://dx.doi.org/10.1186/s12883-021-02134-7

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