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Peter Kang, M.D.

Peter Kang, M.D. - Research & Publications

(352) 273-8920

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  1. Kang PB, Lidov HGW, White AJ, Mitchell M, Balasubramanian A, Estrella E, Bennett RR, Darras BT, Shapiro FD, Bambach BJ, Kurtzberg J, Gussoni E, Kunkel LM. Inefficient dystrophin expression after cord blood transplantation in DMD. Muscle and Nerve 2010;41:746-750.
  2. Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HMS, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB. Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics 2010;11:449-455.
  3. McMillan HJ, Gregas M, Darras BT, Kang PB. Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy. Pediatrics 2011;127:e132-136.
  4. Boyden SE, Duncan AR, Estrella EA, Lidov HGW, Mahoney LJ, Katz JS, Kunkel LM, Kang PB. Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. BMC Medical Genetics 2011;12:87.
  5. Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, B and ouml;nnemann CG, Darras BT, Mendell JR, Lidov HGW, Nishino I, Beggs AH, Kunkel LM, Kang PB. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics 2012;13:115-124.
  6. Shah DU, Darras BT, Markowitz JA, Jones HR Jr, Kang PB. The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years. Pediatric Neurology 2012;47:97-100.
  7. Mitsuhashi S, Mitsuhashi H, Alexander MS, Sugimoto H, Kang PB. Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. FEBS Letters 2013;587:2952-2957.
  8. Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscular Disorders 2013;23:975-980.

Research Interests

The Kang Laboratory focuses on the genetics of muscular dystrophy, and the core project involves gene discovery in limb girdle muscular dystrophy and other muscle diseases. The laboratory makes use of exome and genome sequencing technologies, supplemented as needed by linkage analyses and other approaches. Dr. Kang and his collaborators enroll research subjects with undiagnosed muscle diseases for these studies.

Genes identified in the core project are considered for more in-depth studies to understand the disease processes better and to seek potential therapeutic targets. One such gene is MEGF10, which causes a congenital muscle disease with prominent respiratory distress and scoliosis. The laboratory described a family affected by mutations in this gene, and has determined that at least some pathogenic mutations affect tyrosine phosphorylation of the protein product. This gene is expressed in muscle satellite cells, suggesting that manipulations of it or its protein product may have therapeutic implications for muscle disease. Further analyses are ongoing.