Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
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J. Rosenfeld | J. Lupski | C. Bönnemann | K. Clark | D. Pehlivan | K. Wierenga | Brendan H. Lee | A. Foley | D. Bharucha-Goebel | E. Klee | D. Saade | S. Donkervoort | C. Grunseich | L. Pais | F. Pinto e Vairo | T. Lotze | C. Mohila | M. Schellenberg | E. Estrella | Ying Hu | K. Chao | Tanya L. Schwab | Ying Hu | Joel A Morales-Rosado | A. Cong | Michael T. Zimmermann | Peter B. Kang | Carsten G. Bönnemann | Sarah K. Macklin-Mantia | Hannah R. Littel | Joel A. Morales-Rosado | Tanya L. Schwab | Sarah K. Macklin-Mantia | Davut Pehlivan | Sandra Donkervoort | Jill A. Rosenfeld | Grace E. Boyum | Anh T.Q. Cong | Timothy E. Lotze | Carrie A. Mohila | Dimah Saade | Diana Bharucha-Goebel | Katherine R. Chao | Christopher Grunseich | Christine C. Bruels | Hannah R. Littel | Elicia A. Estrella | Lynn Pais | Peter B. Kang | Michael T. Zimmermann | James R. Lupski | Brendan Lee | Karl J. Clark | Klaas J. Wierenga | Eric W. Klee | Grace E Boyum | Christine C. Bruels