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
Topics & Concepts
MyopathyMuscular dystrophyLimb-girdle muscular dystrophyAlleleExome sequencingGeneticsMedicinePhenotypeBiologyInternal medicineEndocrinologyGeneMuscle Physiology and DisordersGenetic Neurodegenerative DiseasesLipoproteins and Cardiovascular Health