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Updated: Jan 27, 2026

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Muscular dystrophies: alterations in a limited number of cellular pathways?
1Institute of Genetics Biochemistry and Evolution - Consiglio Nazionale Ricerche Via Abbiategrasso 207, 27100, Pavia, Italy. toniolo@igbe.pv.cnr.it
Abstract:
Identification of new genes involved in muscle disorders has dramatically changed the traditional clinical classification of the large and heterogeneous group of the muscular dystrophies. Results obtained in recent years by positional candidate cloning have demonstrated the role of the sarcolemma and of the nuclear envelope in normal muscle function and have elucidated molecular pathways perturbed by mutations that lead to muscular dystrophy.
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