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Updated: Apr 16, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

Diana X Bharucha-Goebel1, Erin Neil1, Sandra Donkervoort1

  • 1From the National Institutes of Health (D.X.B.-G., S.D., E.A.W., C.G.B.), Bethesda, MD; Children's National Medical Center (D.X.B.-G.), Washington, DC; CS Mott Children's Hospital (E.N.), University of Michigan, Ann Arbor; Columbia University Medical Center (J.D.), New York, NY; Prevention Genetics (T.L.W.), Marshfield, WI; University of Iowa (S.A.M.), Iowa City; and University of Texas Southwestern Medical Center Dallas (S.T.I.), Dallas, TX. Dr. Winder is currently with Invitae Corp., San Francisco, CA.

Neurology
|March 15, 2015
PubMed
Abstract

No abstract available in PubMed .

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