169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

Goebel, Hans H.; Bönnemann, Carsten G.

doi:10.1016/j.nmd.2011.02.009

Cited by 14 publications

(2 citation statements)

References 27 publications

(31 reference statements)

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“…The families were principally identified by their highly characteristic features on muscle biopsies. The clinical and pathological features of the Swedish family have been described 34,35 and the Dutch patient was briefly described in a workshop report 40 .…”

Section: Methodsmentioning

confidence: 99%

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

et al. 2019

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Myoglobin, encoded by MB , is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O 2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.292C>T (p.His98Tyr) substitution in MB in fourteen members of six European families suffering from an autosomal dominant progressive myopathy with highly characteristic sarcoplasmic inclusions in skeletal and cardiac muscle. Myoglobinopathy manifests in adulthood with proximal and axial weakness that progresses to involve distal muscles and causes respiratory and cardiac failure. Biochemical characterization reveals that the mutant myoglobin has altered O 2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin. Preliminary studies show that mutant myoglobin may result in elevated superoxide levels at the cellular level. These data define a recognizable muscle disease associated with MB mutation.

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Section: Methodsmentioning

confidence: 99%

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

et al. 2019

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“…Spheroid bodies, fingerprint bodies, cylindrical spirals, cytoplasmic bodies and tubular aggregates are rare structural defects that each have given their name to a disorder . Many of these are highlighted by Gӧmӧri trichrome staining.…”

Section: Other Congenital Myopathies With Other Structural Changesmentioning

confidence: 99%

Myopathology in congenital myopathies

Sewry

Wallgren‐Pettersson

2017

Neuropathology Appl Neurobio

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Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth while others have a milder, moderately progressive or nonprogressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner, or arise de novo. Muscle biopsies show characteristic pathological features such as nemaline rods/bodies, cores, central nuclei or caps. Small type 1 fibres expressing slow myosin are a common feature and may sometimes be the only abnormality. Small cores (minicores) devoid of mitochondria and areas showing variable myofibrillar disruption occur in several neuromuscular disorders including several forms of congenital myopathy. Muscle biopsies can also show more than one structural defect. There is considerable clinical, pathological and genetic overlap with mutations in one gene resulting in more than one pathological feature, and the same pathological feature being associated with defects in more than one gene. Increasing application of whole exome sequencing is broadening the clinical and pathological spectra in congenital myopathies, but pathology still has a role in clarifying the pathogenicity of gene variants as well as directing molecular analysis.

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Electron Microscopy in Skeletal Muscle Pathology

Curtis

Sewry

2012

Diagnostic Electron Microscopy – A Practical Guide to Interpretation and Technique

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169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

Cited by 14 publications

References 27 publications

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Myopathology in congenital myopathies

Electron Microscopy in Skeletal Muscle Pathology

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