Publications by authors named "M Grandis"
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia.
View Article and Find Full Text PDFStatins are the main cholesterol-lowering treatments, but often they are stopped because of statin myopathy. Expensive second-line treatments are then prescribed, causing a burden on the health system. Previous research showed that creatine supplementation may be a relatively inexpensive, safe, and effective way to mitigate statin toxicity to the muscle.
View Article and Find Full Text PDFBackground: Despite a reduction of both incidence and mortality from CRC, recent studies have shown an increase in the incidence of early-onset CRC (EO-CRC). Data on this setting are limited. The aim of our study was to evaluate the clinical and molecular profiles of metastatic EO-CRC patients in order to identify differences compared to a late-onset CRC (LO-CRC) control group.
View Article and Find Full Text PDFBackground: Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus proved to be an effective method to detect epigenetic signatures compatible with FSHD. The present study aims at validating the employment of this method into clinical practice and improving the protocol by refining the classification thresholds of 4qA/4qA patients.
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- Biallelic mutations in the MME gene are linked to late-onset CMT2T, with recent findings suggesting heterozygous mutations may also contribute to varying degrees of axonal neuropathy severity.
- The study involved 32 Italian patients, using neurological and genetic tests to assess the impact of MME variants, revealing that both biallelic and heterozygous patients experience similar symptoms but with biallelic patients showing earlier and more severe disease progression.
- CM2T is characterized as a late-onset neuropathy primarily affecting older adults, with it being particularly relevant for those with biallelic mutations as they tend to show quick disease progression.