Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Mutation of the LARGE gene is the rarest of the six known genetic causes of α-dystroglycanopathy. We report further a family with MDC1D due to a complex genomic rearrangement that was not apparent on standard sequencing of LARGE. Two sisters in a consanguineous family had moderate mental retardation...

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Bibliographic Details
Published in:	European journal of human genetics : EJHG Vol. 19; no. 4; pp. 452 - 457
Main Authors:	CLARKE, Nigel F, MAUGENRE, Svetlana, ENDO, Tamao, CHOUERY, Eliane, CAMPBELL, Kevin P, MEGARBANE, André, GUICHENEY, Pascale, VANDEBROUCK, Aurélie, URTIZBEREA, J. Antoni, WILLER, Tobias, PEAT, Rachel A, GRAY, Prançoise, BOUCHET, Céline, MANYA, Hiroshi, VUILLAUMIER-BARROT, Sandrine
Format:	Journal Article
Language:	English
Published:	Basingstoke Nature Publishing Group 01-04-2011
Subjects:	Base Sequence Biological and medical sciences Biopsy Child Child, Preschool Chromosome Duplication - genetics Codon, Nonsense Diseases of striated muscles. Neuromuscular diseases Dystroglycans - deficiency Exons Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans INDEL Mutation Intellectual Disability - genetics Introns - genetics Mannosyltransferases - metabolism Medical genetics Medical sciences Molecular and cellular biology Muscular Dystrophies - genetics N-Acetylglucosaminyltransferases - genetics N-Acetylglucosaminyltransferases - metabolism Neurology RNA Splicing - genetics Chromosomal aberration Nervous system diseases Neuromuscular diseases Congenital alpha-dystroglycan Insertion congenital muscular dystrophy 1D Muscular dystrophy Genetic disease Cerebral disorder Eye disease DNA duplication Gene Intron muscle-eye-brain disease DNA Central nervous system disease Deletion Abnormal chromosome Genetics Muscle Chromosome duplication Dystrophin
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