The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

ABSTRACT:

Objective

The histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases.

Methods

We performed a retrospective multi-centre cohort study focussing on the histopathological features of patients with MH or RM due to RYR1 mutations (1987-2017). All muscle biopsies were reviewed by a neuromuscular pathologist. Additional morphometric and electron microscopic analysis were performed where possible.

Results

Through the six participating centres we identified 50 patients from 46 families, including patients with MH (n = 31) and RM (n = 19). Overall, the biopsy of 90% of patients showed one or more myopathic features including: increased fibre size variabili

SUBMITTER: Knuiman GJ 

PROVIDER: S-EPMC6420893 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature