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• W1624173645 abstract "We present clinical features and genetic results of 1206 index patients and 124 affected relatives who were referred for genetic testing of Charcot–Marie–Tooth ( CMT ) neuropathy at the laboratory in Aachen between 2001 and 2012. Genetic detection rates were 56% in demyelinating CMT (71% of autosomal dominant (AD) CMT1 / CMTX ), and 17% in axonal CMT (24% of AD CMT2 / CMTX ). Three genetic defects ( PMP22 duplication/deletion, GJB1 /Cx32 or MPZ / P0 mutation) were responsible for 89.3% of demyelinating CMT index patients in whom a genetic diagnosis was achieved, and the diagnostic yield of the three main genetic defects in axonal CMT ( GJB1 /Cx32 , MFN2 , MPZ / P0 mutations) was 84.2%. De novo mutations were detected in 1.3% of PMP22 duplication, 25% of MPZ / P0 , and none in GJB1 /Cx32 . Motor nerve conduction velocity was uniformly <38 m/s in median or ulnar nerves in PMP22 duplication, >40 m/s in MFN2 , and more variable in GJB1 /Cx32 , MPZ / P0 mutations. Patients with CMT2A showed a broad clinical severity regardless of the type or position of the MFN2 mutation. Out of 75 patients, 8 patients (11%) with PMP22 deletions were categorized as CMT1 or CMT2 . Diagnostic algorithms are still useful for cost‐efficient mutation detection and for the interpretation of large‐scale genetic data made available by next generation sequencing strategies." @default.
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• W1624173645 date "2015-04-29" @default.
• W1624173645 modified "2023-10-01" @default.
• W1624173645 title "Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients" @default.
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• W1624173645 doi "https://doi.org/10.1111/cge.12594" @default.
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