Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child/DR. SCHUELKE AND COLLEAGUES REPLY

DR. SCHUELKE AND COLLEAGUES REPLY: Williams raises the question of whether the increased muscle mass in the child we describe might be due to an imprinting disorder and suggests that maternal isodisomy should be ruled out. Here we provide data to rule out uniparental isodisomy of chromosome 2 on the...

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Bibliographic Details
Published inThe New England journal of medicine Vol. 351; no. 10; p. 1030
Main Authors Catipovic, Branimir, Williams, Marc S, Uhlenberg, Birgit, Lucke, Barbara, Schuelke, Markus
Format Journal Article
LanguageEnglish
Published Boston Massachusetts Medical Society 02.09.2004
Subjects
Hercules
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Summary:DR. SCHUELKE AND COLLEAGUES REPLY: Williams raises the question of whether the increased muscle mass in the child we describe might be due to an imprinting disorder and suggests that maternal isodisomy should be ruled out. Here we provide data to rule out uniparental isodisomy of chromosome 2 on the basis of microsatellite-marker analysis of specimens from the patient and his mother. We detected a founder haplotype for which the patient was homozygous in a 20-cM segment around the myostatin gene (Fig. 1).
ISSN:0028-4793
1533-4406