MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

ABSTRACT:

Background

Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neu

SUBMITTER: Fiorillo C 

PROVIDER: S-EPMC4936326 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature