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Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report

BACKGROUND: Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Mutations in the CRPPA gene (encoding CDPLribitol pyrophosphorylase A) are recognized as causative factors of dystroglycanopathies, a subtype of CMD with defects in glyc...

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Detalles Bibliográficos
Autores principales:	Yang, Mi, Xing, Ru-Xin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283581/ https://www.ncbi.nlm.nih.gov/pubmed/34307571 http://dx.doi.org/10.12998/wjcc.v9.i19.5226

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