ULLRICH CONGENITAL MUSCULAR DYSTROPHY (UCMD): CLINICAL AND GENETIC CORRELATIONS

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BOZORGMEHR BITA; KARIMINEJAD ARIANA; NAFISSI SHAHRIAR; JEBELLI BITA; ANDONI URTIZBEREA; GARTIOUX CORINE; CELINE LEDEUIL; ALLAMAND VALERIE; PASCALE RICHARD

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Journal: Iranian Journal of Child Neurology Year:2013 | Volume:7 | Issue:3 Page(s): 15-22

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Title

ULLRICH CONGENITAL MUSCULAR DYSTROPHY (UCMD): CLINICAL AND GENETIC CORRELATIONS

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Keywords

ULLRICH CONGENITAL MUSCULAR DYSTROPHY

COLLAGEN TYPE VI

COL6A1

COL6A2

Abstract

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 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 was performed by sequencing of complementary DNA.Results COL VI secretion was altered in all studied fibroblast cultures. Two affected sibs carried a homozygous nonsense mutation in exon 12 of COL6A2, while another patient had a large heterozygous deletion in exon 5-8 of COL6A2. The two other affected sibs had homozygote mutation in exon 24 of COL6A2, and the last one was homozygote in COL6A1.Conclusion In this study, we found out variability in clinical findings and genetic inheritance among UCMD patients, so that the patient with complete absence of COLVI was severely affected and had a large heterozygous deletion in COL6A2. In contrast, the patients with homozygous deletion had mild to moderate decrease in the secretion of COL VI and were mildly to moderately affect.

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APA: Copy

BOZORGMEHR, BITA, KARIMINEJAD, ARIANA, NAFISSI, SHAHRIAR, JEBELLI, BITA, ANDONI, URTIZBEREA, GARTIOUX, CORINE, CELINE, LEDEUIL, ALLAMAND, VALERIE, & PASCALE, RICHARD. (2013). ULLRICH CONGENITAL MUSCULAR DYSTROPHY (UCMD): CLINICAL AND GENETIC CORRELATIONS. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 7(3), 15-22. SID. https://sid.ir/paper/303436/en

Vancouver: Copy

BOZORGMEHR BITA, KARIMINEJAD ARIANA, NAFISSI SHAHRIAR, JEBELLI BITA, ANDONI URTIZBEREA, GARTIOUX CORINE, CELINE LEDEUIL, ALLAMAND VALERIE, PASCALE RICHARD. ULLRICH CONGENITAL MUSCULAR DYSTROPHY (UCMD): CLINICAL AND GENETIC CORRELATIONS. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2013;7(3):15-22. Available from: https://sid.ir/paper/303436/en

IEEE: Copy

BITA BOZORGMEHR, ARIANA KARIMINEJAD, SHAHRIAR NAFISSI, BITA JEBELLI, URTIZBEREA ANDONI, CORINE GARTIOUX, LEDEUIL CELINE, VALERIE ALLAMAND, and RICHARD PASCALE, “ULLRICH CONGENITAL MUSCULAR DYSTROPHY (UCMD): CLINICAL AND GENETIC CORRELATIONS,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 7, no. 3, pp. 15–22, 2013, [Online]. Available: https://sid.ir/paper/303436/en

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