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

Joel A. Morales‐Rosado, Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh Cong, Timothy Lotze, Carrie Mohila, Dimah Saade, Diana Bharucha‐Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee

2023The American Journal of Human Genetics36 citationsDOIOpen Access PDF

Topics & Concepts

MyopathyMuscular dystrophyLimb-girdle muscular dystrophyAlleleExome sequencingGeneticsMedicinePhenotypeBiologyInternal medicineEndocrinologyGeneMuscle Physiology and DisordersGenetic Neurodegenerative DiseasesLipoproteins and Cardiovascular Health
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy | Litcius