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229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

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The 229th ENMC workshop entitled ‘Limb Girdle Muscular Dystrophies – Nomenclature and reformed Classification’ took place from the 17th to the 19th of March 2017 in Naarden, The Netherlands. A… Click to show full abstract

The 229th ENMC workshop entitled ‘Limb Girdle Muscular Dystrophies – Nomenclature and reformed Classification’ took place from the 17th to the 19th of March 2017 in Naarden, The Netherlands. A multidisciplinary group of 20 people from 9 countries (UK, Italy, France, USA, Netherlands, Georgia, Finland, Germany and Denmark) attended the workshop. These included: clinicians, experts in disease classification systems, patients with LGMD, and representatives from patient organisations (Jain Foundation Inc, the Beta-Sarcoglycanopathy Family Group, Spierziekten Nederland and Muscular Dystrophy UK). This workshop had the difficult task of revisiting the definition of LGMD and to discuss and propose a new classification system for LGMD sub-types that will be most useful to patients, researchers and clinicians and comply with classification systems established by OMIM (Online Mendelian Inheritance in Man), Orphanet and ICD (International Classification of Diseases)-11.

Keywords: workshop; classification; limb girdle; 229th enmc; girdle muscular; muscular dystrophies

Journal Title: Neuromuscular Disorders
Year Published: 2018

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