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Figure 1 | BMC Medical Genetics

Figure 1

From: Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

Figure 1

Recruitment of patient samples, patterns of inheritance, clinical details and genetic findings among the CMT patients. (A) The annual number of rejected and analyzed samples, 472 in total. Blue color; analyzed in accordance with protocol; green color; analyzed, but with deviation from protocol. (B) The sample count and number of findings in the individual clinical groups. 1; Polyneuropathy/CMT? No further information. 2; Specified symptoms of classical CMT. 3; As 2, but specified as severe. 4; As 2, but also with hearing impairment/deafness, pyramidal features, fasciculation, tremor, white matter changes on MRI. 5 Specified symptoms of atypical CMT (Additional file 1: Table S3). 6; Polyneuropathy as part of a more complex clinical picture with additional features usually not seen in association with CMT. 9; Requesting physician primarily suspects alternative diagnosis. (C) The sample count and number of findings in relation to mode of inheritance. (D) The patterns of inheritance in relation to genetic findings. (E) The NCS results in relation to pattern of inheritance.

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BMC Medical Genetics

ISSN: 1471-2350

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