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Screening for late-onset Pompe disease in Poland.
Acta Neurol Scand
October 2019
Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Objectives: We aimed to screen for late-onset Pompe disease using the dried blood spot (DBS) test in a cohort of patients with limb-girdle muscle weakness or persistent hyperCKemia.
Materials And Methods: Patients with limb-girdle muscle weakness, persistently elevated CK, rigid spine syndrome, dyspnoea, myalgia or sibling of the patient diagnosed with LOPD were included in the study. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry and followed by genetic testing when required.
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.
Neuromuscul Disord
February 2015
Department of Neurology, Jing'an District Center Hospital of Shanghai, China. Electronic address:
We report two patients of Chinese ancestry with hereditary myopathy with early respiratory failure, one sporadic with atypical onset as rigid spine syndrome, the other familial with 10 years' history of hyperCKemia. Muscle biopsy was either nonspecific or typical with cytoplasmic bodies and rimmed vacuoles. Despite the phenotypic variety, both patients showed fatty infiltration of semitendinosus on muscle magnetic resonance imaging.
View Article and Find Full Text PDFMalignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation.
Anesth Analg
October 2009
Department of Anesthesiology, School of Medicine and Public Health, University of Wisconsin, B6/319 Clinical Sciences Center, 600 Highland Ave., Madison, WI 53792-3272, USA.
We describe a child who developed a malignant hyperthermia-like syndrome after exposure to succinylcholine and halothane. Many features of a typical malignant hyperthermia episode were present, including tachydysrhythmia, tachypnea, and fever in association with metabolic acidosis, hyperCKemia, myglobinemia, and rapid recovery without residual effects upon administration of dantrolene, sodium bicarbonate, and active cooling. Muscle rigidity, hypercarbia, and hyperkalemia were not observed.
View Article and Find Full Text PDFNovel DYSF mutations in Thai patients with distal myopathy.
Clin Neurol Neurosurg
September 2009
Division of Neuropathology, Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok-Noi, Bangkok 10700, Thailand.
Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF. It encompasses limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal myopathy with anterior tibial onset (DMAT), isolated hyperCKemia, rigid spine syndrome and congenital muscular dystrophy. Herein, we report five Thai patients with distal myopathy due to dysferlinopathy including four MM and one DMAT patients.
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