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 fibrobla...

Abstract Background Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in Landseer dogs. Materials We collected data from two affected dogs investigated the neuromuscular changes five different litters with immunohist...

Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint h...

how to cite this article: nilipor y, shariatmadari f, abdollah gorji f, rouzrokh m, ghofrani m, karimzadeh p, taghdiri mm,  delavarkasmaei h, ahmadabadi f, bakhshandeh bali mk, nemati h, saket s, jafari n, yaghini o, tonekaboni sh.  evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. iran j child neurol. 2013 spring;7(2):17-21.   obje...