These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report.
    Author: Kulkarni SD, Sayed R, Garg M, Patil VA.
    Journal: Neuromuscul Disord; 2015 Nov; 25(11):916-9. PubMed ID: 26432165.
    Abstract:
    Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about PMP22 gene related disorders and varied clinical expression of similar genetic mutations.
    [Abstract] [Full Text] [Related] [New Search]