What Causes Polyglucosan Body Myopathy Type 2?
Faulty glycogen processing linked to RBCK1 forms polyglucosan bodies in muscle, causing weakness and atrophy, and reported cases show how widely PBM2 can vary.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Pioneering Paths in Pontocerebellar Hypoplasia, Type 1C: The Promise of Genetic Testing
EXOSC8 mutations disrupt RNA processing in PCH1C, leading to profound developmental delay and muscle weakness. Testing can confirm the diagnosis early in life.
Porokeratosis 8, Disseminated Superficial Actinic Type: Decoding the Genetic Puzzle
Explore genetic testing in diagnosing Porokeratosis 8 and its role in personalized treatment. Understand genetic mutations and proactive management strategies.
Primary Ciliary Dyskinesia 30: Unraveling Its Genetic Mysteries
Defects in the structure or function of cilia place PCD30 among the ciliopathies; newly reported genetic causes and what DNA testing adds to diagnosis are described.
Probing Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome: The Promise of Genetic Testing
Skin changes, hair loss and joint abnormalities appear alongside a raised risk of hepatocellular carcinoma; DNA testing supports surveillance and treatment choices.
Progressive Encephalopathy with Leukodystrophy Due to DECR Deficiency: A Genetic Insight
Neonatal hypotonia, developmental delay and metabolic problems follow when DECR1 mutations impair mitochondrial fatty acid oxidation; testing can confirm it early.
Pinpointing Progressive Myoclonic Epilepsy Type 7: The Role of Genetic Testing
Mutations in the KCNC1 gene disturb potassium channels in the brain, producing myoclonus, seizures and cognitive decline that genetic testing can tie to PME7.
Pinpointing the Perplexities of Progressive Myoclonic Epilepsy Type 8
Sudden involuntary muscle jerks combine with ataxia in PME-8, and a novel CERS1 mutation gives this rare disorder a genetic marker that testing can detect.