CMT Type 2 represents axonal forms of Charcot-Marie-Tooth disease that are dominantly inherited and make up about one-third of all dominant CMT cases. Patients with Type 2 have a …

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles …

2021年11月19日 · Charcot-Marie-Tooth disease type 2 (CMT2) is a type of CMT whose genetic defects, or mutations, disrupt the structure and function of axons — the long projections of …

The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal …

From OMIM Hereditary motor and sensory neuropathy type IIC (HMSN2C), also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is an autosomal dominant form of peripheral …

What is Charcot-Marie-Tooth disease type 2 (CMT2)? CMT type 2 (CMT2) is a subtype of CMT that is similar to CMT1 but is less common. CMT2 is typically inherited in an autosomal …

AR-CMT (CMT 2B5): Severe, Early onset 78 Neurofilament light chain (NEFL) ; Chromosome 8p21.2; Recessive Epidemiology: Palestinian & Japanese families

CMT Type 2 represents axonal forms that are dominantly inherited and make up about one-third of all dominant CMT cases. The clinical presentation is similar to Type 1: distal weakness, …

Charcot-Marie-Tooth disease, or CMT, is a genetic disease of the nervous system with many different causes that are divided into different types. Despite sharing similar symptoms, …

Charcot-Marie-Tooth (CMT) disease is the most common inherited neurologic disorder. CMT is characterized by inherited neuropathies without known metabolic derangements.