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FB2026_03
,
released September 17, 2026
This report describes Charcot-Marie-Tooth disease, type 2T (CMT2T), which is a subtype of Charcot-Marie-Tooth disease; CMT2T usually exhibits autosomal recessive inheritance. It is one of several diseases associated with the human gene MME (membrane metalloendopeptidase). See the human disease model report for 'neurodegenerative disease, MME-related' (FBhh0000631) for information on a Drosophila disease model using human MME.
[updated Sep. 2017 by FlyBase; FBrf0222196]
Charcot-Marie-Tooth disease (CMT) constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. CMT is divided into several major types: Type 1 is characterized by demyelination and by a significantly slowed motor median nerve conduction velocity (NCV). Type 2 is characterized by axonal abnormalities and a normal or slightly reduced NCV. "Intermediate" types describe CMT families with nerve conduction velocities, in different affected individuals, that overlap the division between Type 1 and Type 2. Additional types are defined on the basis inheritance patterns. [from MIM:609260 and MIM:606482; 2015.12.15]
Symptoms typically include progressive distal muscle weakness and atrophy, often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. [from Gene Reviews, http://www.ncbi.nlm.nih.gov/books/NBK1358 2015.12.15]
[CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CMT2T](https://omim.org/entry/617017)
[MEMBRANE METALLOENDOPEPTIDASE; MME](https://omim.org/entry/120520)
Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016; pubmed:26991897). [from MIM:617017; 2017.09.25]
Typically, Charcot-Marie-Tooth disease type 2T (CMT2T) is caused by homozygous or compound heterozygous mutation in the MME gene; some patients may carry heterozygous MME mutations. [from MIM:617017; 2017.09.25]
MME (membrane metalloendopeptidase) encodes a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues; it inactivates a number of peptide hormones including glucagon, enkephalins, substance P, neurotensin, angiotensin, oxytocin, bradykinin, and atrial natriuretic factor. [from Gene Cards, MME; 2017.09.25]