Peter Kang, M.D.

Peter B Kang, M.D.

(352) 273-8920

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Publications

Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement
Muscle & Nerve
2020

The ties that bind: functional clusters in limb-girdle muscular dystrophy
Skeletal Muscle
2020

The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila
FEBS letters (Online)
2019

Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II
Journal of Clinical Imaging Science
2019

Emery-Dreifuss muscular dystrophy
Muscle & Nerve
2019

Variants in Exosc9 Disrupt the RNa Exosome and Result in Cerebellar Atrophy With Spinal Motor Neuronopathy

2018

The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Physiological Genomics
2018

Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence
Pediatric Neurology
2018

AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome.
Human Gene Therapy
2018

The Sensitivity of Exome Sequencing in Identifying Pathogenic Mutations for Lgmd in the United States
Journal of Human Genetics
2017

The Role of Thymectomy in the Treatment of Juvenile Myasthenia Gravis: a Systematic Review
Pediatric Surgery International
2017

Electrophysiologic Features of Ulnar Neuropathy in Childhood and Adolescence
Clinical Neurophysiology
2017

Electrophysiologic Features of Fibular Neuropathy in Childhood and Adolescence

2017

Consequences of Megf10 Deficiency on Myoblast Function and Notch1 Interactions
Human Molecular Genetics
2017

Child Neurology Recruitment and Training: Views of Residents and Child Neurologists From the 2015 Aap/CNS Workforce Survey
Pediatric Neurology
2017

The Child Neurology Clinical Workforce in 2015: Report of the Aap/CNS Joint Taskforce

2016

Homozygous Nonsense Mutation in Sgca Is a Common Cause of Limb-Girdle Muscular Dystrophy in Assiut, Egypt

2016

Plin2 Inhibits Insulin-Induced Glucose Uptake in Myoblasts Through the Activation of the Nlrp3 Inflammasome
International Journal of Molecular Medicine
2015

Outcome Reliability in Non-Ambulatory Boys/Men With Duchenne Muscular Dystrophy

2015

Evidence-Based Guideline Summary: Evaluation, Diagnosis, and Management of Congenital Muscular Dystrophy Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular and Electrodiagnostic Medicine

2015

The Motor Neuron Response To Smn1 Deficiency in Spinal Muscular Atrophy Reply

2014

Silencing of Drpr Leads To Muscle and Brain Degeneration in Adult Drosophila
The American Journal Of Pathology
2014

Identifying Diagnostic Dna Methylation Profiles for Facioscapulohumeral Muscular Dystrophy in Blood and Saliva Using Bisulfite Sequencing
Clinical Epigenetics
2014

Clinical Trial Readiness for Non-Ambulatory Boys and Men With Duchenne Muscular Dystrophy: 12 and 24 Month Follow-Up From the Mda-Dmd Network
Neuromuscular Disorders
2014

Update On Juvenile Myasthenia Gravis
Current Opinion in Pediatrics
2013

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.