Results 51 to 60 of about 7,618,843 (150)
Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases
MedComm, Volume 5, Issue 7, July 2024.The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng +2 more
wiley +1 more source
Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]
, 2003 The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core
WIREs Mechanisms of Disease, Volume 16, Issue 2, March/April 2024.The giant protein titin is a vital component in our muscles, and even small variations can lead to complications including life‐threatening heart disease. We review the titin missense variants reported in the scientific literature to aid researchers in tackling titin‐associated diseases.
Timir G. R. Weston +3 more
wiley +1 more source
Mechanochemical consequences of myopathy‐linked mutations in Tpm2.2 on striated muscle contractility
The FASEB Journal, Volume 38, Issue 1, 15 January 2024.Myopathy‐linked mutations in Tpm2.2, an isoform of striated muscle tropomyosin, can lead to hypercontractile or hypocontractile molecular phenotypes. Depending on the localization of the mutations in Tpm2.2 sequence, they have different impacts on the association of Tpm2.2 with actin and the regulation of the actin–myosin cross‐bridge cycle.
Recep Küçükdogru +6 more
wiley +1 more source
Corrigendum: A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy
Frontiers in Neurology, 2022 Kun Huang +3 more
doaj +1 more source
Mutations in TPM2 and congenital fibre type disproportion
, 2012 Contains fulltext : 108778.pdf (Publisher’s version ) (Open Access)The main diagnostic feature of congenital fibre type disproportion is that type 1 fibres are consistently smaller than type 2 fibres in the absence of other histological
Waddell, L.B. +8 more
core +1 more source
Congenital Myopathy in Lowe Syndrome
, 1990 Congeni tal fiber type disproportion myopathy is described in two brothers with oculo-cerebro-renal syndrome of Lowe from the Department of Pediatrics, Tsuchiura Kyoudou Hospital; Ibaraki; Tsukuba University; Tokyo Medical and Dental University; and ...
J Gordon Millichap
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Functional effects of mutations in the skeletal muscle ryanodine receptor type 1 (RYR1) linked to malignant hyperthermia and central core disease [PDF]
, 2006 Malignant hyperthermia (MH) is a pharmacogenetic disorder with autosomal dominant inheritance. In susceptible individuals, a MH crisis may be triggered by commonly used halogenated anaesthetics (halothane, isoflurane) or muscle relaxants ...
Ducreux, Sylvie
core +1 more source
A TPM3 mutation causing cap myopathy.
, 2009 International audienceCap disease is a rare congenital myopathy associated with skeletal malformations and respiratory involvement. Abnormally arranged myofibrils taking the appearance of a "cap" are the morphological hallmark of this entity. We report a
Lunardi, Joël +7 more
core +1 more source
, 2014 Congenital myopathies are difficult to classify correctly through molecular testing due to the size and heterogeneity of the genes involved. Therefore, the prevalence of the various genetic causes of congenital myopathies is largely unknown.
Duno, Morten +5 more
core +1 more source