An in frame, lys236 deletion in the intracytoplasmic domain of myelin protein zero (MPZ) has recently been designated as a mutation possibly associated with C harcot-Marie-Toothdisease (CMT) but requiring further docu...
Background: The MPZ Thr124Met mutation is characterised by a late onset, pupil lary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy. Objecti...