Four unrelated Iranian families with six affected children with typical UCMD were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI in skin fibroblast culture using quantitative RT–PCR (Q-RT-PCR), and mutation identification
نویسندگان
چکیده
1. Kariminejad-Najmabadi Genetic Center, Tehran-Iran 2. Shariati Hospital, Tehran, Iran 3. Pediatric Neurologist, Tehran, Iran 4. Hospital Marin, Paris, France 5. UPMC Univ Paris 06, IFR14, Paris, F-75013, France 6. CNRS, UMR7215, Paris, F-75013, France 7. Inserm, U974, Paris, F-75013, France 8. Institut de Myologie, Paris, F-75013, France 9. AP-HP, Groupe Hospitalier PitiéSalpêtrière, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris, F-75013, France
منابع مشابه
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations
OBJECTIVE Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance. MATERIALS & METHODS Four unrelated Iranian families with six affected...
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