Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

ABSTRACT:

Background

Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle muscle weakness, congenital fiber type disproportion, multi-minicore disease were also reported in connection of MYH7. Pathogeneses of the defects in the head and proximal rod region of the protein are well described. However, the C-terminal mutations of the MYH7 gene are less known. Moreover, only two articles describe the phenotypic impact of the elongated mature protein product caused by termination signal loss.

Case presentation

Here we present a male patient with an unusual phenotypic variant of early-onset and predominant invo

SUBMITTER: Banfai Z 

PROVIDER: S-EPMC5606036 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature