Article
Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
Neurologia i neurochirurgia polska - 1 Jan 2000
Sulek Anna, Lusakowska Anna, Krysa Wioletta, Rajkiewicz Marta, Kaminska Anna, Nojszewska Monika, Kostera-Pruszczyk Anna, Zdzienicka Elzbieta, Kubalska Jolanta, Rakowicz Maria, Szirkowiec Walentyna, Kwiecinski Hubert, Zaremba Jacek
Abstract excerpt
INTRODUCTION: Myotonic dystrophies (DMs) type 1 (DM1) and type 2 (DM2) are autosomal dominant, multisystem disorders, considered the most common dystrophies in adults. DM1 and DM2 are caused by dynamic mutations in the DMPK and CNBP genes, respectively. METHODS: Molecular analyses were performed by PCR and the modified RP-PCR in patients, in their at-risk relatives and prenatal cases. RESULTS: The analysis of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.