Diseases of the nervous system
Polyneuropathies and other disorders of the peripheral nervous system
Autosomal Dominant
17p12
For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B. CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age [From OMIM].
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 118220.1 | Saudi Arabia | Female | No | Yes | Muscle weakness; Distal muscle weakness;... Muscle weakness; Distal muscle weakness; Areflexia; Hammertoe; Scoliosis  | NM_000304.4:c.449G>T | Heterozygous | Autosomal, Dominant | Monies et al. 2017 | |
| 118220.G | Lebanon | Unknown | | PMP22, 1.4-MB DUP | Heterozygous | Autosomal, Dominant | Megarbane et al. 2022 | 4 patients from 4 fa... |