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Article

Moderately progressive Ullrich congenital muscular dystrophy.

Jornal de pediatria - 1 Jan 2000

Carakushansky Gerson, Ribeiro Marcia Gonçalves, Kahn Evelyn

Abstract excerpt

OBJECTIVES: To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive investigation, which included collagen VI immunohistochemical and genomic analyses. DESCRIPTION: This study was based on clinical, immunohistochemical assessment of muscle tissue and genomic analysis of dermal fibroblasts of a 7 1/2-year...

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Share to Collagen Type VI
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22016142
DOI: 10.2223/JPED.2112

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