نتایج جستجو برای: ullrich congenital muscular dystrophy
تعداد نتایج: 169567 فیلتر نتایج به سال:
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying bef...
Muscle fibers attach to laminin in the basal lamina using two distinct mechanisms: the dystrophin glycoprotein complex and the alpha 7 beta 1 integrin. Defects in these linkage systems result in Duchenne muscular dystrophy (DMD), alpha 2 laminin congenital muscular dystrophy, sarcoglycan-related muscular dystrophy, and alpha 7 integrin congenital muscular dystrophy. Therefore, the molecular con...
Muscle fibers attach to laminin in the basal lamina using two distinct mechanisms: the dystrophin glycoprotein complex and the a 7 b 1 integrin. Defects in these linkage systems result in Duchenne muscular dystrophy (DMD), a 2 laminin congenital muscular dystrophy, sarcoglycan-related muscular dystrophy, and a 7 integrin congenital muscular dystrophy. Therefore, the molecular continuity between...
Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and contractures. Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth. A particular subset of classic CMD is characterized by a complete absence of merosin. Merosin-deficie...
OBJECTIVE Muscle biopsy is a very important diagnostic test in the investigation of a child with suspected neuromuscular disorder. The goal of this study was to review and evaluate pediatric muscle biopsies during a 2-year period with focus on histopathology diagnosis and correlations with other paraclinic studies. MATERIALS & METHODS We investigated 100 muscle biopsies belonging to patients ...
Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type neuronal migration disorder of the brain. A similar combination of muscle and brain involvement is also seen in Walker-Warburg syndrome (WWS) and Fukuyama congenital muscular dys...
background and objective: becker muscular dystrophy (bmd) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. the frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. the diagnostic panel composed of serum ceratin kinase (sck) measurement, electromyography (emg), and as a major co...
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