Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.

doi:10.1016/j.nmd.2008.06.367

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Article

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.

Neuromuscular disorders : NMD - 1 Aug 2008

Claeys K G, Fardeau M, Schröder R, Suominen T, Tolksdorf K, Behin A, Dubourg O, Eymard B, Maisonobe T, Stojkovic T, Faulkner G, Richard P, Vicart P, Udd B, Voit T, Stoltenburg G

Abstract excerpt

We studied the ultrastructural characteristics in patients with myofibrillar myopathy (MFM) and differentiated between MFM-subtypes using electron microscopic (EM) findings. The ultrastructural findings in 19 patients with different genetically proven MFMs (9 desmin, 5 alphaB-crystallin, 3 ZASP, 2 myotilin) were analyzed. In one ZASPopathy, we additionally performed an immunoEM study, using antibodies against...

Topics

Adaptor Proteins, Signal Transducing
Aged
Connectin
Crystallins
Cytoskeletal Proteins
Desmin
Female
Humans
LIM Domain Proteins
Male
Microfilament Proteins
Microscopy, Electron, Transmission
Microscopy, Immunoelectron

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mitochondria, Muscle

Muscle Proteins

Muscular Diseases

Mutation

Source

Open in PubMed

Identifiers

PMID: 18653338
DOI: 10.1016/j.nmd.2008.06.367

Provenance

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