Хвороба Шарко-Марі-Тута, тип 2B2
ORPHA:101101· ICD-10 G60.0· Charcot-Marie-Tooth disease type 2B2
Визначення(English summary)
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adult