Dysferlin

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.

Limb-girdle muscular dystrophy (MD) type R2 (LGMDR2, formerly LGMD2B) is an autosomal recessive form of MD caused by variants in the dysferlin gene, DYSF. It leads to slow proximal and distal muscle weakening that generally results in loss of ambulation...

๐Ÿ—“๏ธ 2025-08-01
๐Ÿ“ฐ Publication: Journal Of Cachexia Sarcopenia And Muscle
Read MoreHigh-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.

Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using Na-MRI in Dysferlinopathy and Healthy Controls.

Dysferlin plays a key role in cell membrane repair; its absence or malfunction in patients with dysferlin-deficient limb girdle muscular dystrophy leads to muscle fibre death. Muscle magnetic resonance (MR) imaging allows non-invasive and repeatable measurements that can report on...

๐Ÿ—“๏ธ 2025-02-01
๐Ÿ“ฐ Publication: Journal Of Cachexia Sarcopenia And Muscle
Read MoreRapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using Na-MRI in Dysferlinopathy and Healthy Controls.

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