Diagnostic advances in neuromuscular disorders.
نویسندگان
چکیده
منابع مشابه
Diagnostic NGS for Severe Neuromuscular Disorders.
Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular disorders (NMD) presenting at or before birth.
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2. The normal sensori-motor nerve conduction with absent F-waves and tendon jerks of a moderately de-saturated semiconscious patient in the intensive care unit may be seen in: a. A classical pattern of critical illness myopathy involving both proximal and distal muscles b. Post-synaptic neuromuscular disorder c. The early stages of motor neuron disease (MND) (axonal loss) before the period of W...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1972
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.47.251.149-c