Features include always present findings: Mitochondrial hypertrophy and Fiber type grouping; and very common findings: Pes cavus and Sensory ataxia. 22 total HPO annotations.

Biomarker and diagnostic research for Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 2 very common features, 6 common features.

No clinical trials have been registered for Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1.

5 publications have been identified in PubMed for Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1. Research spans Case Report / Case Series (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

• Burns J (2026). [PMID: 41571707](https://pubmed.ncbi.nlm.nih.gov/41571707/). *Nat Rev Dis Primers*. [Review / Meta-Analysis]

• Abati E (2026). [PMID: 42020662](https://pubmed.ncbi.nlm.nih.gov/42020662/). *Sci Rep*. [Diagnostic / Biomarker]

• Barsa C (2025). [PMID: 40121276](https://pubmed.ncbi.nlm.nih.gov/40121276/). *Sci Rep*. [Basic Science / Preclinical]

• Estévez-Arias B (2025). [PMID: 40814755](https://pubmed.ncbi.nlm.nih.gov/40814755/). *Ann Neurol*. [Case Report / Case Series]

• Borisova NR (2025). [PMID: 41354077](https://pubmed.ncbi.nlm.nih.gov/41354077/). *Biochemistry (Mosc)*. [Case Report / Case Series]