Open AccessModerately progressive Ullrich congenital muscular dystrophy
Author(s) -
Gerson Carakushansky,
Márcia Gonçalves Ribeiro,
Evelyn Kahn
Publication year - 2011
Publication title -
jornal de pediatria
Language(s) - Portuguese
Resource type - Journals
SCImago Journal Rank - 0.645
H-Index - 52
eISSN - 1678-4782
pISSN - 0021-7557
DOI - 10.2223/jped.2112
Subject(s) - medicine , muscular dystrophy , pediatrics , differential diagnosis , medical diagnosis , genetic syndromes , pathology , bioinformatics , biology
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.
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