Genetic Counseling and NGS Screening for Recessive LGMD2A Families.

ABSTRACT: : Genetic counseling applied to limb-girdle muscular dystrophies (LGMDs) can be very challenging due to their clinical and genetic heterogeneity and the availability of different molecular assays. Genetic counseling should therefore be addressed to select the most suitable approach to increase the diagnostic rate and provide an accurate estimation of recurrence risk. This is particularly true for families with a positive history for recessive LGMD, in which the presence of a known pathogenetic mutation segregating within the family may not be enough to exclude the risk of having affected children without exploring the genetic background of phenotypically unaffected partners. In this work, we presented a family with a positive history for LGMD2A (OMIM #253600, also known as calpainopathy) c

SUBMITTER: Strafella C 

PROVIDER: S-EPMC7349198 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature