Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

ABSTRACT:

Objective

Some pathologic features of the FHL1 myopathies and the myofibrillar myopathies (MFMs) overlap; we therefore searched for mutations in FHL1 in our cohort of 50 patients with genetically undiagnosed MFM.

Methods

Mutations in FHL1 were identified by direct sequencing. Polymorphisms were excluded by using allele-specific PCR in 200 control subjects. Structural changes in muscle were analyzed by histochemistry, immunocytochemistry, and electron microscopy.

Results

We detected 2 novel and 1 previously identified missense mutation in 5 patients. Patients 1-4 presented before age 30, display menadione-nitro blue tetrazolium-positive reducing bodies, and harbor mutations in the FHL1 LIM2 domain. Patient 5 presented at age 75 and has no reducing bodies, and his mutat

SUBMITTER: Selcen D 

PROVIDER: S-EPMC3235356 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature