Features include always present findings: Lower limb muscle weakness, EMG: neuropathic changes, Babinski sign, and Lower limb amyotrophy; and common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Upper limb amyotrophy, Upper limb muscle weakness, and Impaired vibratory sensation. 23 total HPO annotations.

NEFH encodes neurofilament heavy chain (1,020 aa). Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. Highest expression in Prostate (158.9 TPM) and Brain Frontal Cortex BA9 (104.3 TPM).

Charcot-Marie-Tooth disease axonal type 2CC is caused by mutations in the NEFH gene on chromosome 22.

NEFH is classified as a druggable target with score 0.0.

Genetic testing for NEFH is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 4 common features.

No clinical trials have been registered for Charcot-Marie-Tooth disease axonal type 2CC.

4 publications have been identified in PubMed for Charcot-Marie-Tooth disease axonal type 2CC. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Di Sarno I (2024). [PMID: 39223423](https://pubmed.ncbi.nlm.nih.gov/39223423/). *Neurol Sci*. [Case Report / Case Series]

• Misra K (2024). [PMID: 39000354](https://pubmed.ncbi.nlm.nih.gov/39000354/). *Int J Mol Sci*. [Basic Science / Preclinical]

• Marriott H (2024). [PMID: 38775181](https://pubmed.ncbi.nlm.nih.gov/38775181/). *Ann Clin Transl Neurol*. [Review / Meta-Analysis]

• Karthikeyan P (2024). [PMID: 39548682](https://pubmed.ncbi.nlm.nih.gov/39548682/). *Mol Genet Genomic Med*. [Epidemiology / Natural History]