PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.

ABSTRACT:

Introduction

McArdle disease presents clinical and genetic heterogeneity. There is no obvious association between genotype and phenotype. PYGM (muscle glycogen phosphorylase gene) mRNA expression and its association with clinical, morphological, and genetic aspects of the disease as a set have not been studied previously.

Methods

We investigated genetic variation in PYGM considering the number of PTCs (premature termination codon) per sample and compared mRNA expression in skeletal muscle samples from 15 patients with McArdle disease and 16 controls to PTCs number and different aspects of the disease.

Results

The main variant found was c.148C>T (PTC-premature termination codon). Patients with two PTCs showed 42% mRNA expression compared to the control group. Most case

SUBMITTER: Carvalho AAS 

PROVIDER: S-EPMC7394413 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature