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Limb-girdle muscular dystrophy

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Limb-girdle muscular dystrophy" returned 6 free, full-text review articles. First few results:
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with Mutations.
Last Updated: Feb 10, 2020

Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb muscles that usually appears in children and young adults and results ...

[Research advances in limb-girdle muscular dystrophy type 2Q].
Last Updated: Aug 26, 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies with predominantly proximal muscular weakness, and some genes associated with this disease have been identified at present. LGMD type 2Q (LGMD2Q) is a subtype of LGMD and is associated with PLEC gene mutation. ...

Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review.
Last Updated: Mar 29, 2019

Dysferlin myopathy is an autosomal recessive hereditary muscular dystrophy due to deficiency of dysferlin caused by alteration of the DYSF gene; Limb-girdle muscular dystrophy type 2B (LGMD2B) is the most common in Its clinical phenotypes. However, LGMD2B is rarely seen in clinical ...

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6 Free Review Articles 29 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Limb-girdle muscular dystrophy" returned 1 free, full-text editorial articles. First 1 results:
Limb-girdle muscular dystrophy type 2A.
Last Updated: Aug 26, 2010

Full PubMed Editorials matches at NCBI:
1 Free Editorials 4 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Limb-girdle muscular dystrophy" returned 143 free, full-text research articles. First few results:
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
Last Updated: Feb 14, 2020

Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, including ...

The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.
Last Updated: Jan 15, 2020

The causative mutation responsible for limb girdle muscular dystrophy 1F (LGMD1F) is one heterozygous single nucleotide deletion in the stop codon of the nuclear import factor Transportin 3 gene (TNPO3). This mutation causes a carboxy-terminal extension of 15 amino acids, producing ...

Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most.
Last Updated: Jan 14, 2020

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 ...

Full PubMed Research articles matches at NCBI:
143 Free Research Articles 438 Research Articles