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About 1,429 results

ALLMedicine™ Limb-girdle Muscular Dystrophy Center

Research & Reviews  711 results

Psychological parameters impact health-related quality of life in mental and physical d...
https://doi.org/10.1016/j.nmd.2021.01.007
Neuromuscular Disorders : NMD; O'Dowd DN, Bostock EL et. al.

Feb 17th, 2021 - The impacts of potentially treatable psychological parameters on quality of life are relatively unreported in adults with Facioscapulohumeral, Becker and Limb-girdle muscular dystrophy. The purpose of this study was to compare quality of life, psy...

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement ...
https://doi.org/10.1536/ihj.20-354
International Heart Journal; Tan SML, Ong CC et. al.

Feb 1st, 2021 - Dysferlin is a sarcolemmal protein present in muscle cells. It is responsible for muscle membrane repair. Dysferlin gene (DYSF) mutation, resulting in deficiency in this protein, is termed dysferlinopathy. Clinically, it manifests as early adultho...

Myostatin inhibition promotes fast fibre hypertrophy but causes loss of AMP-activated p...
https://doi.org/10.1113/JP279943
The Journal of Physiology; Kramerova I, Marinov M et. al.

Jan 18th, 2021 - Limb-girdle muscular dystrophy R1 (LGMD R1) is caused by mutations in the CAPN3 gene and is characterized by progressive muscle loss, impaired mitochondrial function and reductions in the slow oxidative gene expression programme. Myostatin is a ne...

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystroph...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789357
Skeletal Muscle; Mickelson JR, Minor KM et. al.

Jan 7th, 2021 - A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified. Muscle biopsy histopathology, immunofluorescence microscopy, and ...

Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-...
https://doi.org/10.1089/hum.2019.199
Human Gene Therapy; Griffin DA, Pozsgai ER et. al.

Dec 22nd, 2020 - Limb-girdle muscular dystrophy type 2D/R3 (LGMD2D/R3) is a progressive muscular dystrophy that manifests with muscle weakness, respiratory abnormalities, and in rare cases cardiomyopathy. LGMD2D/R3 is caused by mutations in the SGCA gene resulting...

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Clinicaltrials.gov  715 results

Psychological parameters impact health-related quality of life in mental and physical d...
https://doi.org/10.1016/j.nmd.2021.01.007
Neuromuscular Disorders : NMD; O'Dowd DN, Bostock EL et. al.

Feb 17th, 2021 - The impacts of potentially treatable psychological parameters on quality of life are relatively unreported in adults with Facioscapulohumeral, Becker and Limb-girdle muscular dystrophy. The purpose of this study was to compare quality of life, psy...

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement ...
https://doi.org/10.1536/ihj.20-354
International Heart Journal; Tan SML, Ong CC et. al.

Feb 1st, 2021 - Dysferlin is a sarcolemmal protein present in muscle cells. It is responsible for muscle membrane repair. Dysferlin gene (DYSF) mutation, resulting in deficiency in this protein, is termed dysferlinopathy. Clinically, it manifests as early adultho...

Myostatin inhibition promotes fast fibre hypertrophy but causes loss of AMP-activated p...
https://doi.org/10.1113/JP279943
The Journal of Physiology; Kramerova I, Marinov M et. al.

Jan 18th, 2021 - Limb-girdle muscular dystrophy R1 (LGMD R1) is caused by mutations in the CAPN3 gene and is characterized by progressive muscle loss, impaired mitochondrial function and reductions in the slow oxidative gene expression programme. Myostatin is a ne...

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystroph...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789357
Skeletal Muscle; Mickelson JR, Minor KM et. al.

Jan 7th, 2021 - A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified. Muscle biopsy histopathology, immunofluorescence microscopy, and ...

Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-...
https://doi.org/10.1089/hum.2019.199
Human Gene Therapy; Griffin DA, Pozsgai ER et. al.

Dec 22nd, 2020 - Limb-girdle muscular dystrophy type 2D/R3 (LGMD2D/R3) is a progressive muscular dystrophy that manifests with muscle weakness, respiratory abnormalities, and in rare cases cardiomyopathy. LGMD2D/R3 is caused by mutations in the SGCA gene resulting...

see more →

News  3 results

Consider Muscular Dystrophies Even in Older Patients
https://www.mdedge.com/neurology/article/54766/rheumatology/consider-muscular-dystrophies-even-older-patients
Sharon Worcester

Jun 5th, 2012 - DESTIN, FLA. – An increasing number of patients are presenting with muscular dystrophy in adulthood.

Mutation Causes Muscular Dystrophy With Cognitive Impairment
https://www.medscape.com/viewarticle/738732

Mar 9th, 2011 - March 10, 2011 — Researchers have provided the first genetic evidence to indicate that the dystroglycan-encoding gene (DAG1) is directly involved in the development of limb-girdle muscular dystrophy with associated cognitive dysfunction. Kevin P. ...

Mutation Causes Muscular Dystrophy With Cognitive Impairment
https://www.staging.medscape.com/viewarticle/738732

Mar 9th, 2011 - March 10, 2011 — Researchers have provided the first genetic evidence to indicate that the dystroglycan-encoding gene (DAG1) is directly involved in the development of limb-girdle muscular dystrophy with associated cognitive dysfunction. Kevin P. ...

see more →