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pro vyhledávání: '"Lehtilahti, M. (Maria)"'
Autor:
Lehtilahti, M. (Maria)
Charcot-Marie-Tooth (CMT) disease is probably the most common inherited neuromuscular disorder with prevalence estimates of 10–82/100,000. CMT is a clinically and genetically heterogeneous group of disorders that can be classified based on their hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::0264b3bda92206f9f6da6511439ee7ba
http://urn.fi/urn:isbn:9789526232881
http://urn.fi/urn:isbn:9789526232881
Background and Objectives: Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene cause autosomal dominant or autosomal recessive forms of Charcot-Marie-Tooth disease (CMT). Our aim was to study the clinical phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::afb9457c3463e5e806437716773b8020
http://urn.fi/urn:nbn:fi-fe2022021418905
http://urn.fi/urn:nbn:fi-fe2022021418905