Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

Joel A. Morales‐Rosado(Vanderbilt University Medical Center), Eric W. Klee(Mayo Clinic), Matthew J. Schellenberg(Mayo Clinic), A. Reghan Foley(National Institute of Neurological Disorders and Stroke), Hannah R. Littel(University of Minnesota), Tanya L. Schwab(Mayo Clinic), Karl J. Clark(Mayo Clinic), Diana Bharucha‐Goebel(National Institutes of Health), Carrie Mohila(Baylor College of Medicine), Klaas J. Wierenga(Mayo Clinic in Florida), Davut Pehli̇van(Baylor College of Medicine), Grace E. Boyum(Mayo Clinic), Sandra Donkervoort(Government of the United States of America), Katherine R. Chao(Broad Institute), Anh Cong(Mayo Clinic in Arizona), Brendan Lee(Baylor College of Medicine), Filippo Pinto e Vairo(Mayo Clinic), Lynn Pais(MACOM (United States)), Jill A. Rosenfeld(Baylor College of Medicine), Michael T. Zimmermann(Medical College of Wisconsin), Elicia Estrella(Boston Children's Hospital), Christine C. Bruels(University of Florida), Carsten G. Bönnemann(National Institute of Neurological Disorders and Stroke), Peter B. Kang(Boston Children's Hospital), Christopher Grunseich(National Institutes of Health), Sarah K. Macklin‐Mantia(Mayo Clinic), Dimah Saade(University of Iowa), James R. Lupski(Baylor College of Medicine), Ying Hu(National Institute of Neurological Disorders and Stroke), Timothy Lotze(Baylor College of Medicine)
The American Journal of Human Genetics
May 10, 2023
Cited by 37


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