Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

ABSTRACT:

Background

We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher.

Methods

We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016).

Results

Ninety-four new patients (all Caucasian) have been diagnosed, yielding a prevalence of ~1/139,543 individuals. Around 55% of the mutated alleles have the commonest PYGM pathogenic mutation p.R50X, whereas p.W798R and p.G205S account for 10 and

SUBMITTER: Santalla A 

PROVIDER: S-EPMC5688471 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature