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Facial Weakness in Heterozygous Carriers of Calpain3 mutation

Author

Listed:
  • Ruben Attali
  • Stella Mitrani-Rosenbaum

    (Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center, Israel)

  • NasimWarwar
  • Harel Shein
  • Irina Gurt

    (Monique and Jacques Roboh Research Laboratory and Altura Department of Human Genetics, Hadassah Hebrew University Medical Center, Israel)

  • Judith Melki PhD

    (Unité Mixte de recherche (UMR)-1169, Inserm and University Paris Saclay, France)

  • Yakov Fellig

    (Department of Pathology, Hadassah Hebrew University Medical Center, Israel)

  • Zohar Argov MD
  • Marc Gotkine

    (Agnes Ginges, Department of Neurology, Hadassah Hebrew University Medical Center, Israel)

Abstract

The limb–girdle muscular dystrophies (LGMD) are a heterogeneous group of disorders characterized by weakness and wasting of the pelvic and shoulder girdle muscles. Various clinical features may allow suspicion of a particular molecular diagnosis, including: age of onset, relative muscle involvement, cardio-respiratory involvement, presence of contractures and inheritance type. LGMD2A is due to mutation in the CAPN3 gene, resulting in a deficiency of the enzyme calpain.

Suggested Citation

  • Ruben Attali & Stella Mitrani-Rosenbaum & NasimWarwar & Harel Shein & Irina Gurt & Judith Melki PhD & Yakov Fellig & Zohar Argov MD & Marc Gotkine, 2018. "Facial Weakness in Heterozygous Carriers of Calpain3 mutation," Open Access Journal of Neurology & Neurosurgery, Juniper Publishers Inc., vol. 7(3), pages 63-65, April.
    • Handle: RePEc:adp:joajnn:v:7:y:2018:i:3:p:63-65
    DOI: 10.19080/OAJNN.2018.07.555714
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