A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.
Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). The most common demyelinating form is CMT1A, due to a duplication in the gene encoding the peripheral myelin protein 22 (PMP22). Less frequently, mutations in the myelin protein zero gene (MPZ/P0) account for demyelinating CMT1B. Herein, we report a patient presenting with an isolated hyperCKemia in whom electrophysiological and pathological findings revealed a demyelinating and axonal neuropathy. Sequencing of the MPZ gene revealed a 306delA at codon 102 in the proband and in two relatives. This mutation has been already described in association with paucisymptomatic CMT without hyperCKemia.
Luigetti
M
M
Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. mluigetti@gmail.com
Modoni
A
A
Renna
R
R
Silvestri
G
G
Ricci
E
E
Montano
N
N
Tasca
G
G
Papacci
M
M
Monforte
M
M
Conte
A
A
Pomponi
M G
MG
Sabatelli
M
M
D000200:Action Potentials / Q000502:physiology; D000328:Adult; D001369:Axons / Q000473:pathology; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003062:Codon / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood*; D003933:Diagnosis; D004576:Electromyography; D005190:Family; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D009154:Mutation / Q000502:physiology*; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D010525:Peripheral Nerves / Q000503:physiopathology; D011984:Sensory Receptor Cells / Q000502:physiology
D003062:Codon; D018993:Myelin P0 Protein; D003402:Creatine Kinase