"Limb-girdle" search results...

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

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.

POMPE

Pompe disease: Pathogenesis, molecular genetics and diagnosis

2020-08-03

Early detection is critical for preventing or reducing the permanent organ damage that comes with Pompe disease (PD) progression. Pathogenesis, clinical phenotypes, molecular genetics, diagnosis and treatments about PD are covered in this article.

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

2019-07-01

Although Pompe disease was once thought to be predominantly a muscle disorder, it is now obvious that there is involvement of multiple other organs. Great efforts have been made for clarifying the clinical aspects of Pompe disease, raising awareness of the challenges that LOPD patients face, and improving their quality of life.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

NMDS

Novel compound heterozygous mutations in the TTN gene

NMDS

Serum miRNAs as biomarkers for the rare types of muscular dystrophy

NMDS

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

NMDS

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

POMPE

Pompe disease: Pathogenesis, molecular genetics and diagnosis

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

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