Results 91 to 100 of about 2,813 (174)
, 1999 Limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), a distal muscular dystrophy, are both caused by mutations in the recently cloned gene dysferlin, gene symbol DYSF. Two large pedigrees have been described which have both types of
Vafiadaki E +11 more
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, 2019 Duchenne muscular dystrophy (DMD) is a progressive hereditary muscular disease with X-linked recessive inheritance, that leads patients to premature death.
Emanuela Mazzon +8 more
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The effects of overexpression of lamin a and two mutants associated with premature aging on stem cell differentiation and proliferation. [PDF]
, 2007 The nuclear lamina is composed of A and B-type lamins and performs a number of functions within the nucleus. Mutations within lamins give rise to a group of diseases called laminopathies including autosomal dominant Emery-Dreifuss muscular dystrophy and ...
Gibbs-Seymour, Ian
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Dysferlin-deficient muscular dystrophy features amyloidosis
Objective: Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi\u27s myopathy. The consequences of DYSF mutations on protein structure are poorly understood.
Bushby K +9 more
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, 2013 Limb-Girdle muscular dystrophy (LGMD) is the collective term describing a neuromuscular condition that results from mutation in one of him 16 muscle-related genes.
Snow, Adam B.
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Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features
, 2000 The cluster in Jews of Libyan origin of limb-girdle muscular dystrophy type 2B due to a dysferlin 1624delG mutation is described. The carrier frequency of this mutation is calculated to be approximately 10% in this population, in which the disease ...
Argov, Z. +12 more
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Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy [PDF]
Background: Identifying translatable, non-invasive biomarkers of muscular dystrophy that better reflect the disease pathology than those currently available would aid the development of new therapies, the monitoring of disease progression and the ...
Bushby K +8 more
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The role of A-Type lamins and LAP2a in cellular ageing of human fibroblasts in vitro [PDF]
, 2005 Mutations in LMNA gene have been linked to a number of age-related tissue-specific diseases and premature ageing syndromes termed laminopathies. The finding that A- type lamins affect longevity and maintenance of a number of somatic tissues makes them ...
PekovicÌ, Vanja, Peković, Vanja
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Dysferlinopathy is a rare autosomal recessive muscular dystrophy caused by mutations in the dysferlin gene, with a global prevalence of approximately 1–5 cases per million population. Its incidence is estimated to range from 1 in 200,000 to 1 in 1,000,000 live births; however, it is often underdiagnosed due to clinical variability and limited awareness.
openaire +2 more sources