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The Val102fs mutation of the myelin protein zero gene (MPZ) has been associated with Charcot–Marie–Tooth disease type 1B (CMT1B). Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. Two sisters aged 41 and 35years complained of neck pain and presented only pes cavus or deep-tendon hyporeflexia...
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