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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child/DR. SCHUELKE AND COLLEAGUES REPLY
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Journal Article
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child/DR. SCHUELKE AND COLLEAGUES REPLY
2004
Overview
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).
Publisher
Massachusetts Medical Society
Subject
