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Journal of Gene Medicine, 2020
The dysferlin gene or the DYSF gene encodes the Ca2+‐dependent phospholipid‐binding protein dysferlin, which belongs to the ferlin family and is associated with muscle membrane regeneration and repair.
Liangshan Li +8 more
semanticscholar +1 more source
The dysferlin gene or the DYSF gene encodes the Ca2+‐dependent phospholipid‐binding protein dysferlin, which belongs to the ferlin family and is associated with muscle membrane regeneration and repair.
Liangshan Li +8 more
semanticscholar +1 more source
OP0079 LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B - A RARE MYOSITIS MIMIC
, 2021Proximal muscle weakness with associated raised creatine kinase (CK) commonly leads to referral to Rheumatology for the investigation of Idiopathic Inflammatory Myopathy (IIM).
A. Merriman, S. Boyle
semanticscholar +1 more source
Journal of Back and Musculoskeletal Rehabilitation, 2018
Dysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance.
H. Algahtani +5 more
semanticscholar +1 more source
Dysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance.
H. Algahtani +5 more
semanticscholar +1 more source
, 2020
We present a 34‐year‐old woman, from Philippines, diagnosed limb‐girdle muscular dystrophy type 2B with compound heterozygous nonsense mutation W1478* and novel deletion of exons 43‐46 of the dysferlin gene.
K. J. Porto +8 more
semanticscholar +1 more source
We present a 34‐year‐old woman, from Philippines, diagnosed limb‐girdle muscular dystrophy type 2B with compound heterozygous nonsense mutation W1478* and novel deletion of exons 43‐46 of the dysferlin gene.
K. J. Porto +8 more
semanticscholar +1 more source
INDIAN JOURNAL OF PHYSICAL THERAPY
Background: Dysferlinopathy is a disease which is caused by mutation of DYSF gene leading to deficiency of dysferlin protein which impairs muscle fibre regeneration after performing basic functional activities leading to muscle weakness, DOMS, severe ...
K. Kakar +2 more
semanticscholar +1 more source
Background: Dysferlinopathy is a disease which is caused by mutation of DYSF gene leading to deficiency of dysferlin protein which impairs muscle fibre regeneration after performing basic functional activities leading to muscle weakness, DOMS, severe ...
K. Kakar +2 more
semanticscholar +1 more source
Circulation
Introduction: Dysferlinopathy, a subgroup within muscular dystrophies, is an autosomal recessive myopathy that entails a spectrum of progressive muscle degeneration with a pathogenic mechanism of impaired sarcolemma.
J. Kim, B. Vajravelu
semanticscholar +1 more source
Introduction: Dysferlinopathy, a subgroup within muscular dystrophies, is an autosomal recessive myopathy that entails a spectrum of progressive muscle degeneration with a pathogenic mechanism of impaired sarcolemma.
J. Kim, B. Vajravelu
semanticscholar +1 more source