Results 11 to 20 of about 38,417 (217)
Congenital Myopathy with Apoptotic Changes
Pediatric Neurology Briefs, 2000 A case of congenital myopathy with myonuclear changes consistent with apoptotic degeneration in a 4-year-old girl is reported from the National Institute of Neuroscience, Tokyo, Japan.
J Gordon Millichap
doaj +2 more sources
Mitochondrial Myopathy and Congenital Cataract
Pediatric Neurology Briefs, 1993 The autosomal recessive syndrome characterized by mitochondrial myopathy of cardiac and skeletal muscle, congenital cataract and lactic acidosis is described in two forms following a retrospective study of 16 patients at the University of Nijmegen, The ...
J Gordon Millichap
doaj +2 more sources
Pediatric Neurology Briefs, 1994 A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of Siena, Italy.
J Gordon Millichap
doaj +2 more sources
Congenital X-Linked Autophagic Vacuolar Myopathy
Pediatric Neurology Briefs, 2005 A Chinese-American family with a severe X-linked congenital autophagic vacuolar myopathy (AVM) affecting 7 boys is reported from the National Center of Neurology and Psychiatry, Kodaira, Tokyo, and Utano National Hospital, Kyoto, Japan; and Shandong ...
J Gordon Millichap
doaj +2 more sources
Journal of Obstetric Anaesthesia and Critical Care, 2022 We present the anaesthetic management of a parturient with myogenic differentiation-1 gene-related congenital myopathy who presented for urgent caesarean section due to pre-eclampsia and respiratory failure.
Hafiza B Misran +3 more
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CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES [PDF]
Neuromuscular Disorders, 2021 A. Monseur +6 more
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Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations
Indian Journal of Pathology and Microbiology, 2022 Electron microscopy (EM) has a substantial role in the diagnosis of skeletal muscle disorders. The ultrastructural changes can be observed in muscle fibers and other components of the muscle tissue. EM serves as a confirmatory tool where the diagnosis is
Rashmi Santhoshkumar +1 more
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<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum. [PDF]
J Med Genet, 2022 BACKGROUND: Bi-allelic pathogenic variants in FXR1 have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency, and infantile death, and a milder form ...
Mroczek M +19 more
europepmc +2 more sources
European Journal of Paediatric Neurology, 2001 Most congenital myopathies have been defined on account of the morphological findings in enzyme histochemical preparations. In effect, the diagnosis of this group of diseases continues to be made on the histological pattern of muscle biopsies. However, progress has been made in elucidating the molecular genetic background of several of the congenital ...
A, Bornemann, H H, Goebel
openaire +5 more sources
GNE – related severe congenital macrothrombocytopenia: A case report and literature review
Journal of Applied Hematology, 2022 Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
Muhammad Matloob Alam +6 more
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