Russell Butterfield, MD, Ph.D.

Assistant Professor, Departments of Neurology and Pediatrics
Co-director, Muscular Dystrophy Association Clinic
Principal Investigator, Utah Program for Inherited Neuromuscular Disorders

Division of Pediatric Neurology
Primary Children's Medical Center
81 N Mario Capecchi Dr
Salt Lake City, UT 84113
contact address
http://healthcare.utah.edu/fad/mddetail.php?physicianID=u0422151

Biosketch:

Dr. Russell Butterfield received his PhD in mammalian genetics and his degree in medicine from the University of Illinois. He completed his residency training in pediatric neurology at the University of Utah in June 2009 and then completed a fellowship in neuromuscular disorders. Dr. Butterfield is board certified in neurology with special qualification in child neurology. He is currently an Assistant Professor in the Departments of Neurology and Pediatrics at the University of Utah.

Dr. Butterfield’s clinical interests include all types of neurogenetic and neuromuscular disorders with an emphasis on muscular dystrophies of childhood onset. His research interests are in understanding genetic aspects of these disorders. His current efforts are in characterization of genotype/phenotype relationships and molecular pathogenesis in collagen VI myopathies such as Bethlem myopathy and Ullrich congenital muscular dystrophy.

Selected Bibliography:

Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Hum Mutat. 2015;36(1):48-56. PubMed abstract / Full Text

Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ.
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
Neurology. 2014;82(15):1322-30. PubMed abstract / Full Text

Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG.
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Hum Mutat. 2013;34(11):1558-67. PubMed abstract / Full Text

Blankenhorn EP, Butterfield R, Case LK, Wall EH, del Rio R, Diehl SA, Krementsov DN, Saligrama N, Teuscher C.
Genetics of experimental allergic encephalomyelitis supports the role of T helper cells in multiple sclerosis pathogenesis.
Ann Neurol. 2011;70(6):887-96. PubMed abstract / Full Text

Morita DC, Donaldson A, Butterfield RJ, Benedict SL, Bale JF Jr.
Methylenetetrahydrofolate reductase gene polymorphism and childhood stroke.
Pediatr Neurol. 2009;41(4):247-9. PubMed abstract