Congenital myopathy caused by a novel missense mutation in the CFL2 gene

Ockeloen, Charlotte W.; Gilhuis, H. Jacobus; Pfundt, Rolph; Kamsteeg, Erik‐Jan; Agrawal, Pankaj B.; Beggs, Alan H.; Hama-Amin, Ako Dara; Diekstra, Adinda; Knoers, Nine V A M; Lammens, Martin; Alfen, Nens van

doi:10.1016/j.nmd.2012.03.008

Cited by 50 publications

(49 citation statements)

References 25 publications

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“…Features additional to nemaline bodies have been described in muscle biopsies of the two previously described families including occasional fibres with minicores, actin aggregation 3 and also features consistent with myofibrillar myopathy. 4 This suggests that CFL2 mutations may result in a wide spectrum of pathological phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

Ong

Alsaman

Selcen

et al. 2014

Journal of Neurology, Neurosurgery & Psychiatry

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Section: Discussionmentioning

confidence: 99%

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

Ong

Alsaman

Selcen

et al. 2014

Journal of Neurology, Neurosurgery & Psychiatry

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“…CFL2 mutations promote the development of myopathies in humans (Agrawal et al, 2007;Ockeloen et al, 2012). Genetic deletion of CFL2 in mice causes lethality eight days after birth due to severe muscle deficiencies and aberrant actin accumulation within muscle myofibrils, indicating that CFL2 has an important role in muscle development and maintenance .…”

Section: Box 1 Physiological Importance Of Adf and Cofilinsmentioning

confidence: 99%

Cellular functions of the ADF/cofilin family at a glance

Kanellos

Frame

2016

Journal of Cell Science

210

189

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The actin depolymerizing factor (ADF)/cofilin family comprises small actin-binding proteins with crucial roles in development, tissue homeostasis and disease. They are best known for their roles in regulating actin dynamics by promoting actin treadmilling and thereby driving membrane protrusion and cell motility. However, recent discoveries have increased our understanding of the functions of these proteins beyond their well-characterized roles. This Cell Science at a Glance article and the accompanying poster serve as an introduction to the diverse roles of the ADF/cofilin family in cells.The first part of the article summarizes their actions in actin treadmilling and the main mechanisms for their intracellular regulation; the second part aims to provide an outline of the emerging cellular roles attributed to the ADF/cofilin family, besides their actions in actin turnover. The latter part discusses an array of diverse processes, which include regulation of intracellular contractility, maintenance of nuclear integrity, transcriptional regulation, nuclear actin monomer transfer, apoptosis and lipid metabolism. Some of these could, of course, be indirect consequences of actin treadmilling functions, and this is discussed.

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“…Mutation of muscle-specific cofilin ( CFL2 ) is a rare cause of nemaline myopathy, having been described in two families to date [38,39]. …”

Section: Genetic Testing For Congenital Myopathiesmentioning

confidence: 99%

Approach to the diagnosis of congenital myopathies

North¹,

Wang²,

Clarke³

et al. 2014

Neuromuscular Disorders

264

228

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Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes. The consensus statement was refined by two rounds of on-line survey, and a three-day workshop. This consensus statement provides guidelines to the physician assessing the infant or child with hypotonia and weakness. We summarise the clinical features that are most suggestive of a congenital myopathy, the major differential diagnoses and the features on clinical examination, investigations, muscle pathology and muscle imaging that are suggestive of a specific genetic diagnosis to assist in prioritisation of genetic testing of known genes. As next generation sequencing becomes increasingly used as a diagnostic tool in clinical practise, these guidelines will assist in determining which sequence variations are likely to be pathogenic.

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Congenital myopathy caused by a novel missense mutation in the CFL2 gene

Cited by 50 publications

References 25 publications

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

Cellular functions of the ADF/cofilin family at a glance

Approach to the diagnosis of congenital myopathies

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