-related muscular dystrophy: identi fi cation of variants in alternative genes and personalized clinical translation

HIGHLIGHTS

  • who: March and collaborators from the Chengde Medical College, China GUARD-Heart), Amsterdam, Netherlands, Cardiovascular Genetics Center, University of Girona-IDIBGI have published the article: -related muscular dystrophy: Identi fi cation of variants in alternative genes and personalized clinical translation, in the Journal: (JOURNAL)
  • what: All patients included in the study had a previous genetic analysis of the LMNA gene. The authors report a targeted genetic analysis and segregation of variants in families, looking for additional rare variants in other genes than LMNA, which could explain the phenotypic differences in LMNA-related muscular diseases.
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