Features include always present findings: Pes cavus, Distal amyotrophy, Onion bulb formation, and Distal muscle weakness and others; and common findings: Hand tremor, Frequent falls, Absent Achilles reflex, and Absent patellar reflexes. 19 total HPO annotations.

PMP2 function has not been fully characterized.

Charcot-Marie-Tooth disease, demyelinating, type 1G is associated with mutations in the PMP2 gene on chromosome 8.

Genetic testing for PMP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Charcot-Marie-Tooth disease, demyelinating, type 1G has been reported in the published literature.

Phenotype severity distribution: 12 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Charcot-Marie-Tooth disease, demyelinating, type 1G.

3 publications have been identified in PubMed for Charcot-Marie-Tooth disease, demyelinating, type 1G. Research spans Basic Science / Preclinical (67%) and Diagnostic / Biomarker (33%).

Recent Publications

• Lauerova B (2025). [PMID: 41177402](https://pubmed.ncbi.nlm.nih.gov/41177402/). *Eur J Med Genet*. [Basic Science / Preclinical]

• Kulsirichawaroj P (2025). [PMID: 40494860](https://pubmed.ncbi.nlm.nih.gov/40494860/). *Pediatr Res*. [Diagnostic / Biomarker]

• Li P (2025). [PMID: 39961410](https://pubmed.ncbi.nlm.nih.gov/39961410/). *Cell Signal*. [Basic Science / Preclinical]