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Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot–Marie–Tooth disease
Author(s) -
Ishiura Hiroyuki,
Mitsui Jun,
Yoshimura Jun,
Doi Koichiro,
Morishita Shinichi,
Hamada Masashi,
Goto Jun,
Tsuji Shoji
Publication year - 2017
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12126
Subject(s) - medicine , tooth disease , disease , mutation , nerve conduction velocity , genetics , compound heterozygosity , pathology , gene , anatomy , biology
Charcot–Marie–Tooth disease is a heterogeneous group of hereditary neuropathies. Diagnosis of the autosomal recessive form of Charcot–Marie–Tooth disease is challenging because of its genetic heterogeneity. Recently, mutations in the MME gene, which encodes neprilysin, have been shown to cause the autosomal recessive form of Charcot–Marie–Tooth disease 2T. Here, we present a female patient with the autosomal recessive form of Charcot–Marie–Tooth disease 2T carrying a novel mutation in MME (c.340_345del CTAGAA [p.(Leu113_Glu114del)]). She started to show numbness and weakness of her distal extremities from her 40 s. An electrophysiological study revealed sensorimotor neuropathy associated with preserved motor conduction velocity in the median nerve (45 m/s), whereas the compound muscle action potentials and sensory nerve action potentials of the lower limbs were markedly decreased. These findings further support the recent report that mutations in MME cause the autosomal recessive form of Charcot–Marie–Tooth disease 2T.