|hereditaire motorische en sensorische neuropathie type 2B1 (aandoening)|
hereditaire motorische en sensorische neuropathie type 2B1
autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2B1
Charcot-Marie-Tooth disease type 2B1
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. It has been described exclusively in families originating from North-Western Africa. Onset occurs in the second decade of life. The disease course and severity are variable, even between affected members of the same family. In general, the disease manifests as distal muscle weakness and atrophy that progress gradually to the proximal muscles. Caused by a p.R644C missense mutation in the lamin A/C protein (encoded by the LMNA gene, 1q22). Transmitted in an autosomal recessive manner.
|referentieset met complexe 'mapping' naar ICD-10|
|Correlation||SNOMED CT source code to target map code correlation not specified|