Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report

BACKGROUND: Mutations within the C-terminal region of the COL6A1 gene are only detected in Ullrich/Bethlem patients on extremely rare occasions. CASE PRESENTATION: Herein we report two Brazilian brothers with a classic Ullrich phenotype and compound heterozygous for two truncating mutations in COL6A...

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Detalhes bibliográficos
Main Authors: Martoni, Elena, Petrini, Stefania, Trabanelli, Cecilia, Sabatelli, Patrizia, Urciuolo, Anna, Selvatici, Rita, D'Amico, Adele, Falzarano, Sofia, Bertini, Enrico, Bonaldo, Paolo, Ferlini, Alessandra, Gualandi, Francesca
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3681647/
https://ncbi.nlm.nih.gov/pubmed/23738969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-59
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