Myopathy Due to Calsequestrin and SERCA1 Overload: Signs
Excess calsequestrin and SERCA1 disturb calcium handling in skeletal muscle, causing weakness, cramps and exercise intolerance; genetic testing identifies the mutations.
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
Genetic Testing for Myopia 24: What Sequencing Can Show
Inherited in a dominant pattern, Myopia 24 needs only one altered copy of the gene; sequencing can find that change before nearsightedness becomes noticeable.
Nail, Teeth, Keratoderma and Oral Hyperpigmentation Syndrome
Abnormal nails and teeth, marginal palmoplantar keratoderma and oral hyperpigmentation occur together in this rare syndrome, which genetic testing may help confirm.
Nanophthalmos 4: Navigating the Genetic Maze of a Rare Eye Disorder
Eye size is reduced without other body-wide abnormalities here, and the dominant condition can lead to farsightedness, angle-closure glaucoma or vision loss.
Nemaline Myopathy 10: Navigating the Genetic Landscape of a Rare Muscle Disorder
In NM10, a TNNT1 variant alters troponin T expression, producing muscle weakness, hypotonia and rod-like nemaline bodies in muscle fibers from an early age.
Nephronophthisis 19: Navigating the Genetic Maze for a Rare Renal Disorder
Subtle early signs make this ciliopathy easy to miss until kidney damage is advanced; an NPHP1 gene deletion clarified one case whose biopsy findings were atypical.
Neu-Laxova Syndrome 2: Understanding the Role of Genetic Testing in Diagnosis and Management
Severe intrauterine growth restriction and craniofacial anomalies mark this rare recessive disorder, which exome sequencing and gene panels can identify before birth.
Orofaciodigital Syndrome Type 14: Decoding the Genetic Blueprint for Better Understanding
Facial asymmetry, cleft palate and digital malformations appear in OFD14, which is inherited in an X-linked dominant pattern and more often affects females.