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Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18

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Bibliographic Details
Published in:	Clinical genetics 2021-11, Vol.100 (5), p.643-644
Main Authors:	Hadouiri, Nawale, Thomas, Quentin, Darmency, Véronique, Dulieu, Véronique, De Rougemont, Marie‐Gabrielle Mourot, Bruel, Ange‐Line, Duffourd, Yannis, Lecoquierre, François, Colomb, Benoit, Perez‐Martin, Stéphanie, Ornetti, Paul, Blanchard, Olivier, Sorlin, Arthur, Philippe, Christophe, Faivre, Laurence, Vitobello, Antonio, Thauvin‐Robinet, Christel
Format:	Article
Language:	English
Subjects:	Amino Acid Substitution Chromosome 4 Chromosomes, Human, Pair 4 Genetic Association Studies Genetic Predisposition to Disease Homozygote Humans Infant, Newborn Male Muscular Dystrophies, Limb-Girdle - diagnosis Muscular Dystrophies, Limb-Girdle - genetics Muscular dystrophy Mutation Phenotype Uniparental Disomy Vesicular Transport Proteins - genetics Whole Exome Sequencing
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