phenotypes
Posted By: AudreyG on 2007-09-07
In Reply to: Patient was given a (s/l) “FEMA” form for demyelination CMT panel. nm - grace
Subject: phenotypes
axonal and demyelinating phenotypes were well concordant among siblings in individual families - could you be hearing phenotypes?
Charcot–Marie–Tooth disease (CMT) - a pathologically and genetically heterogeneous group of motor and sensory neuropathies characterized by slowly progressive weakness, muscle atrophy and sensory impairment, all most marked in the distal part of the legs
http://brain.oxfordjournals.org/cgi/content/full/126/1/134
Lots of info in this website. Hope it helps.
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