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September 21, 2025Journal of Neurosciences in Rural PracticeOpen Access

Peripheral myelin protein 22 p.Tll8M point mutation in a family with no clinical phenotypes of Charcot-Marie-Tooth disease

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Authors

NSN. SreedeviNSN. SwapnaSMSantosh Maruthy

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Overview

Genetic analysis reveals no CMT phenotype influence from PMP22 mutation in two cerebral palsy cases, suggesting variable effects.

Key Points

  • The p.T118M variant was detected in a family with no Charcot-Marie-Tooth symptoms, indicating potential benignity.
  • Direct sequencing confirmed heterozygosity of the mutation in all affected family members without CMT symptoms.
  • Whole-exome sequencing helped identify the mutation in cases with cerebral palsy, highlighting genetic diversity.
  • This research supports the idea that the p.T118M variant may not consistently cause disease, pointing to the need for further investigation.

Cite This Study

Sreedevi et al. (2025) studied this question.

synapsesocial.com/papers/68d46ac231b076d99fa682a3https://doi.org/10.25259/jnrp_462_2024
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease2026 · 1 citations
  2. 2Delayed Genetic Diagnosis of a Rare Presentation of Overlapping Peripheral Myelin Protein 22 (PMP22) Neuropathies2026
  3. 3Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot–Marie–Tooth disease2026
  4. 4P.062 Normal NCS in 42-year-old man with PMP22 duplication2024
  5. 5Molecular Myelin Dysfunction in the Most Common Inherited Peripheral Neuropathies – CMT1A and HNPP2024