Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.

ABSTRACT:

Background

Myosin heavy chain (MyHC) isoforms define the three major muscle fiber types in human extremity muscles. Slow beta/cardiac MyHC (MYH7) is expressed in type 1 muscle fibers. MyHC IIa (MYH2) and MyHC IIx (MYH1) are expressed in type 2A and 2B fibers, respectively. Whereas recessive MyHC IIa myopathy has been described in many cases, myopathy caused by dominant MYH2 variants is rare and has been described with clinical manifestations and muscle pathology in only one family and two sporadic cases.

Methods

We investigated three patients from one family with a dominantly inherited myopathy by clinical investigation, whole-genome sequencing, muscle biopsy, and magnetic resonance imaging (MRI).

Results

Three siblings, one woman and two men now 54, 56 and 66 years o

SUBMITTER: Hedberg-Oldfors C 

PROVIDER: S-EPMC9664609 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature