6533b871fe1ef96bd12d1a65

RESEARCH PRODUCT

Congenital myopathies - a comprehensive update of recent advancements

D. JainChitra SarkarH. H. GoebelM. C. Sharma

subject

Cardiomyopathy DilatedDisease specificPathologymedicine.medical_specialtyH&E stainMuscular DiseasesmedicineHumansGenetic Predisposition to DiseaseMyopathyPathology ClinicalMuscle biopsymedicine.diagnostic_testHistocytochemistrybusiness.industryEnzyme histochemistryGeneral Medicinemedicine.diseaseImmunohistochemistryCongenital myopathyMuscle StriatedClinical methodEnzymesMicroscopy ElectronNeurologyNeurology (clinical)medicine.symptombusiness

description

The congenital myopathies are relatively newly discovered compared with other categories of muscle diseases. Current research continues to clarify and classify the congenital myopathies. These pose a diagnostic problem and cannot be diagnosed by routine hematoxylin and eosin stain. A lot of special techniques are required to diagnose them correctly and it's various subtypes. The disease specific structural changes seen in the muscle are detected by enzyme histochemistry, immunohistochemistry and electron microscopy. Through this review we provide an up-to-date analysis of congenital myopathies including clinical and pathologic aspects.

yearjournalcountryeditionlanguage
2009-01-13Acta Neurologica Scandinavica
https://doi.org/10.1111/j.1600-0404.2008.01126.x