Myopathology in patients with a Noonan phenotype

Autor: R. C. A. Sengers, C.J.A.M. van der Burgt, W. P. de Boode, J. M. van Wijk-Hoek, Jos M. T. Draaisma, E. J. P. Lommen, B.A. Semmekrot, H.J. ter Laak
Rok vydání: 1996
Předmět:
Male
musculoskeletal diseases
congenital
hereditary
and neonatal diseases and abnormalities

animal structures
Muscle Fibers
Skeletal

Clinical description and delineation of genetic syndromes
Muscle spindle
Cardiomyopathy
Inborn errors of metabolism
Pathology and Forensic Medicine
Cellular and Molecular Neuroscience
Fatal Outcome
Biopsy
medicine
Humans
Muscle
Skeletal

skin and connective tissue diseases
Myopathy
Erfelijke stofwisselingsziekten
Muscle Spindles
Klinische beschrijving en moleculaire definiëring van genetische syndromen
medicine.diagnostic_test
Neuromusculaire en neurometabole aandoeningen
business.industry
Myocardium
Noonan Syndrome
Infant
Newborn

Anatomy
Cardiomyopathy
Hypertrophic

medicine.disease
Phenotype
Osteochondrodysplasia
Hypotonia
medicine.anatomical_structure
Neuromuscular and neurometabolic disorders
Noonan syndrome
Female
sense organs
Neurology (clinical)
medicine.symptom
business
Zdroj: Acta Neuropathologica, 92, pp. 597-602
Acta Neuropathologica, 92, 597-602
Acta Neuropathologica, 92, 6, pp. 597-602
ISSN: 0001-6322
Popis: Two patients with a Noonan phenotype and progressive hypertrophic obstructive cardiomyopathy are described, in whom abnormal histopathological changes in striated musculature were detected. In both patients an increased density of muscle spindles was found at biopsy. The significance of an increased density of muscle spindles in patients with Noonan phenotype can only be speculated. The question is raised of whether these changes are a distinct feature within the spectrum of patients with Noonan phenotype.
Databáze: OpenAIRE