Rare Diseases

Current bibliography for experts

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NMDS

Novel compound heterozygous mutations in the TTN gene

2022-05-01

This study reports the first identification of an elongation mutation in the TTN gene, broadening the genetic mutation spectrum of LGMD2J.

NMDS

Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

2022-04-08

The results of this study broaden the genotypic range of ANO5 disease and support the diagnostic value of next-generation sequencing in individuals with limb girdle muscular dystrophy.

NMDS

Serum miRNAs as biomarkers for the rare types of muscular dystrophy

2022-04-01

It was shown that particular circulating miRNAs can be used as biomarkers for muscular dystrophies like Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2.

NMDS

Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations

2022-03-02

This study investigates the potential contribution of the ubiquitin-proteasome pathway to increased SERCA degradation in LGMDR1.

NMDS

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review

2022-01-01

This review illustrated that patients with early childhood-onset disease tend to have faster progression to loss of ambulation than those with late childhood- or adult-onset disease, particularly in LGMDR9.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...