0000000000011867

AUTHOR

J. Michael Schröder

showing 3 related works from this author

Homozygous mutations incaveolin-3cause a severe form of rippling muscle disease

2003

Heterozygous missense mutations in the caveolin-3 gene (CAV3) cause different muscle disorders. Most patients with CAV3 alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness. In some patients, CAV3 mutations underlie the progressive limb-girdle muscular dystrophy type 1C (LGMD1C). Here, we report two unrelated patients with novel homozygous mutations (L86P and A92T) in CAV3. Both presented with a more severe clinical phenotype than usually seen in RMD. Immunohistochemical and immunoblot analyses of muscle biopsies showed a strong reduction of caveolin-3 in both homozygous RMD patients similar to the findings in…

MutationPathologymedicine.medical_specialtySarcolemmabiologyMuscle weaknessMuscle disordermedicine.disease_causemedicine.diseaseDysferlinCaveolin 3Neurologymedicinebiology.proteinMissense mutationNeurology (clinical)Muscular dystrophymedicine.symptomAnnals of Neurology
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The fine structure of de-and reinnervated muscle spindles

1974

Reinnervated muscle spindles in lower lumbrical muscles of rats studied 17 days to 24 months after crushing the sciatic nerve showed a series of alterations which have not been analysed, thus far, by electron microscopy. There was a striking increase of the number of intrafusal muscle fibers seen in approximately 20% of reinnervated spindles. These spindles showed 5–11 intrafusal muscle fibers whereas normal spindles usually contained 3–4 fibers only.

Nerve CrushMuscle spindleMotor nerveSensory systemBasement MembranePathology and Forensic Medicinelaw.inventionCellular and Molecular NeuroscienceMuscle pathologyMyofibrilslawmedicineAnimalsMuscle SpindlesMotor NeuronsMuscle DenervationChemistryAnatomySciatic NerveAxonsMuscle DenervationNerve RegenerationRatsMicroscopy ElectronIntercellular Junctionsmedicine.anatomical_structureFemaleSchwann CellsNeurology (clinical)Sciatic nerveElectron microscopeWallerian DegenerationActa Neuropathologica
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ALTERED RATIO BETWEEN AXON CALIBER AND MYELIN THICKNESS IN SURAL NERVES OF CHILDREN

1978

ABSTRACT Maturation of myelin sheaths in normal sural nerves of children proceeds more slowly than axon growth. This asynchronous development of axons and myelin sheaths results in a statistically significant change of the ratio between axon caliber and myelin thickness during normal development. Therefore, myelin thickness of individual nerve fibers must be related to the size of the axons as well as to the age of the individuals studied. Abnormalities of the relationship between myelin thickness and axon diameter (primary hypomyelination of large, or small, or all fibers) were clearly identified in cases with metachromatic leukodystrophy, KRABBE's, DEJERINE-SOTTAS’, COCKAYNE'S and SANFILI…

Peripheral myelinAnatomyGangliosidosisBiologymedicine.diseaseAxon growthMetachromatic leukodystrophyMyelinmedicine.anatomical_structurenervous systemCaliberCeroid lipofuscinosismedicineAxon
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