A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

M. Luigetti; A. Modoni; R. Renna; G. Silvestri; E. Ricci; N. Montano; G. Tasca; M. Papacci; M. Monforte; A. Conte; M. G. Pomponi; M. Sabatelli

doi:10.1016/j.clineuro.2010.05.001

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

M. Luigetti, A. Modoni, R. Renna, G. Silvestri, E. Ricci, N. Montano, G. Tasca, M. Papacci, M. Monforte, A. Conte, M. G. Pomponi, M. Sabatelli

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	794-797
Number of pages	4
Journal	Clinical Neurology and Neurosurgery
Volume	112
Issue number	9
DOIs	https://doi.org/10.1016/j.clineuro.2010.05.001
Publication status	Published - Nov 2010

Keywords

Electromyography
HyperCKemia
Inherited neuropathy
MPZ
Sural nerve biopsy

ASJC Scopus subject areas

Clinical Neurology
Surgery

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A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia. / Luigetti, M.; Modoni, A.; Renna, R.; Silvestri, G.; Ricci, E.; Montano, N.; Tasca, G.; Papacci, M.; Monforte, M.; Conte, A.; Pomponi, M. G.; Sabatelli, M.

In: Clinical Neurology and Neurosurgery, Vol. 112, No. 9, 11.2010, p. 794-797.

Research output: Contribution to journal › Article › peer-review

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abstract = "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.",

keywords = "Electromyography, HyperCKemia, Inherited neuropathy, MPZ, Sural nerve biopsy",

author = "M. Luigetti and A. Modoni and R. Renna and G. Silvestri and E. Ricci and N. Montano and G. Tasca and M. Papacci and M. Monforte and A. Conte and Pomponi, {M. G.} and M. Sabatelli",

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AU - Luigetti, M.

AU - Modoni, A.

AU - Renna, R.

AU - Silvestri, G.

AU - Ricci, E.

AU - Montano, N.

AU - Tasca, G.

AU - Papacci, M.

AU - Monforte, M.

AU - Conte, A.

AU - Pomponi, M. G.

AU - Sabatelli, M.

PY - 2010/11

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N2 - 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.

AB - 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.

KW - Electromyography

KW - HyperCKemia

KW - Inherited neuropathy

KW - MPZ

KW - Sural nerve biopsy

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A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

Abstract

Keywords

ASJC Scopus subject areas

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