Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

ABSTRACT:

Objective

To define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three-generation families.

Methods

Clinical evaluations as well as exome and panel sequencing analyses were performed in affected and nonaffected members of two families to identify genetic variants segregating with the phenotype. Histological assessment of a muscle biopsy specimen was performed in 1 patient, and quantitative tremor analysis was carried out in 2 patients. Molecular modeling studies and biochemical assays were performed for both mutations.

Results

Two novel missense mutations in MYBPC1 (p.E248K in family 1 and p.Y247H in family 2) were identified and shown to segregate perfectly with the myopathy/tremor phenotyp

SUBMITTER: Stavusis J 

PROVIDER: S-EPMC6685440 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature