Genetics

Limb-girdle muscular dystrophies (LGMDs) were characterized in the clinic before anyone knew what caused the diseases. Consequently, several different diseases that all looked the same to physicians were lumped together into one category that they called “LGMD.” As science advanced,

Jennifer Levy November 6, 2023May 31, 2024 genetic testing, Genetics Read more

New research grant aims to improve genetic diagnoses in individuals with CAPN3 mutations

Coalition to Cure Calpain 3 (C3) is pleased to announce a research grant has been awarded to Dr. Svetlana Gorokhova, working together with Dr. Marc Bartoli in the Translational Neuromyology Team, Marseille Medical Genetics Institute at Aix Marseille University. The

Jennifer Levy February 9, 2023February 9, 2023 C3 News, genetic testing, Genetics, Research Projects Read more

New report confirms calpainopathy is most common type of LGMD

A paper recently published by Madhuri Hegde, Emory University, and colleagues analyzed the outcomes of genetically sequencing a large group of patients with limb girdle weakness in the United States. This study is unique in that it included a very

Jennifer Levy January 16, 2019 genetic testing, Genetics Read more

DID YOU KNOW … there are two ways that calpainopathy can be inherited?

DID YOU KNOW … there are two ways that calpainopathy can be inherited? In over 90% of calpainopathy cases, it is inherited in an autosomal recessive manner. This means that it can be passed on through families, and that siblings

Jennifer Levy March 27, 2018February 9, 2023 genetic testing, Genetics Read more