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Limb-Girdle Muscular Dystrophy: A perspective from adult patients on what matters most.

08:00 EDT 12th July 2019 | BioPortfolio

Summary of "Limb-Girdle Muscular Dystrophy: A perspective from adult patients on what matters most."

Limb-girdle muscular dystrophy (LGMD) consists of over 30 genetic conditions with varying clinical phenotypes primarily affecting pelvic girdle, shoulder girdle, and other proximal limb muscles. Studies focusing on the physical, mental, and social effects of this disease from the patient's perspective are limited.

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This article was published in the following journal.

Name: Muscle & nerve
ISSN: 1097-4598
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PubMed Articles [29978 Associated PubMed Articles listed on BioPortfolio]

Frequency of reported pain in adult males with muscular dystrophy.

The purpose of this study was to present and compare pain between adult males with Duchenne (DMD), Becker's (BMD), Limb-Girdle (LGMD) Facioscapulohumeral (FSHD) forms of Muscular Dystrophy (MD), and h...

Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D.

To analyze variant of SGCA gene in a Chinese pedigree affected with limb-girdle muscular dystrophy type 2D with whole exome sequencing (WGS).

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

Limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscular diseases that predominantly affect the proximal muscles. Pathogenic variants in TNPO3 have been associated wi...

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

LGMD1D is an autosomal dominant limb girdle muscular dystrophy caused by variants in the DNAJB6 gene. This is typically an adult-onset disorder characterized by moderately progressive proximal muscle ...

Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a ...

Clinical Trials [6108 Associated Clinical Trials listed on BioPortfolio]

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD)

Limb Girdle Muscular Dystrophy comprise a group of disorders made up of over 30 mutations which share a common phenotype of progressive weakness of the shoulder and hip girdle muscles. Whi...

Limb Girdle Muscular Dystrophy Type 2E Recruitment Study

This study is to recruit and establish baseline measurements for potential subjects that may be eligible for a gene therapy trial. Specifically, this trial is recruiting individuals who ar...

Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

The objective of this study is to identify and maintain a registry of well-characterized limb-girdle muscular dystrophy (LGMD) patients. Patients seen as part of this study may be candida...

Limb-Girdle Muscular Dystrophy Type 2I in Norway

Key goals are to establish the natural history of limb-girdle muscular dystrophy type 2I (LGMD 2I) and identify feasible and sensitive tools and biomarkers to measure disease affection and...

The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies

The purpose of this study is to assess the safety and biological activity of ATYR1940 in patients with Limb Girdle (LGMD2B) or Facioscapulohumeral Muscular Dystrophy (FSHD).

Medical and Biotech [MESH] Definitions

A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).

A family of transmembrane dystrophin-associated proteins that plays a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX. Mutations abolishing the expression of sarcoglycans result in LIMB-GIRDLE MUSCULAR DYSTROPHY.

A caveolin that is expressed exclusively in MUSCLE CELLS and is sufficient to form CAVEOLAE in SARCOLEMMA. Mutations in caveolin 3 are associated with multiple muscle diseases including DISTAL MYOPATHY and LIMB-GIRDLE MUSCULAR DYSTROPHY.

MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals.

A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

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