Search results with tag "Charcot marie tooth disease"
Facts about Charcot-Marie-Tooth Disease - MD Australia
mdaustralia.org.au1 Facts about Charcot-Marie-Tooth Disease What is Charcot-Marie-Tooth Disease? Charcot-Marie-Tooth disease (CMT) is a neurological disorder, named after the three physicians who first described it in 1886 — Jean-Martin Charcot and
The human disease network - pnas.org
www.pnas.orgAsthma Atheroscierosis Blood group Breast cancer Complement_component deficiency Cardiomyopathy Cataract Charcot-Marie-Tooth disease …
Charcot-Marie-Tooth Disease - mda.org
www.mda.org2 In Focus: Charcot-Marie-Tooth Disease ©2011 MDA. 24 Quest 2011, No. 3 a series of flow charts for physicians to follow that can drastically reduce the cost of CMT genetic testing by reduc-ing the number of genes that need to be analyzed. A paper on the subject was pub- ...
CHARCOT-MARIE TOOTH DISEASE - University of …
www.kumc.eduCharcot-Marie Tooth disease (CMT) Pathophysiology/Etiology Mutation results in defects of myelin structure, maintenance, and formation Demyelinating Schwann cells causes abnormal axon structure and function Some mutations affect the gene MFN2 which codes for mitochondrial protein
Charcot-Marie-Tooth Disease (CMT) What is Charcot-Marie ...
www.musculardystrophyuk.orggene and in AD inheritance, the affected person has one abnormal gene and one normal gene. Each child will only inherit one gene from an affected parent (the other gene will come from the other parent)