Facial Weakness in Heterozygous Carriers of Calpain3 mutation

Ruben Attali, Stella Mitrani-Rosenbaum, NasimWarwar, Harel Shein, Irina Gurt, Judith Melki PhD, Yakov Fellig, Zohar Argov Md and Marc Gotkine
Additional contact information
Stella Mitrani-Rosenbaum: Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center, Israel
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
Marc Gotkine: Agnes Ginges, Department of Neurology, Hadassah Hebrew University Medical Center, Israel

Open Access Journal of Neurology & Neurosurgery, 2018, vol. 7, issue 3, 63-65

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.

Keywords: Open Access Journal of Neurology; Journal of Neurology & Neurosurgery; Open Access Journal; juniper publishers; neurology open access journals; journal of neurology; neurology indexed journals; neurology scholarly journals; journal of neurology; neurology journals impact factor; juniper publishers reivew (search for similar items in EconPapers)
Date: 2018
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Persistent link: https://EconPapers.repec.org/RePEc:adp:joajnn:v:7:y:2018:i:3:p:63-65

DOI: 10.19080/OAJNN.2018.07.555714

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