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The GRMD clinical and histopathological phenotype resembles DMD: typically elevated serum CK activity is detectable shortly after birth, weakness is evident within the first few weeks and joint contractures significantly impair movement by 6 months.
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In general, patients with congenital myasthenic syndromes (CMSs) can develop arthrogryposis in utero, be floppy or intermittently weak from birth, or develop weakness later on.
EBS-MD patients do not have muscular symptoms at birth, but muscle weakness appears later in their life.
15 The SMNΔ7 mouse is phenotypically normal at birth, develops progressive weakness starting at postnatal day (PND) 5 6 and dies at approximately 2 weeks of age.
Background Congenital myopathies are muscle disorders in which infants present with generalized weakness, usually at birth.
Astrology is a useful diagnostic tool enabling us to see strengths and weaknesses via the birth chart.
Half-American by birth, he can see the weaknesses of the English position and comments that, compared with Americans, "the English have never really internalised the notion of free speech".
Strikingly, thin bones were always present in both ears, suggesting that the weakness may be a birth defect or inherited trait rather than an infection, such as meningitis or syphilis, which might affect the ears differently.
Presentation of hypotonia and weakness is "congenital" at birth or in the first years of life with delayed motor milestones.
SMNΔ7 mice are indistinguishable from controls at birth but develop progressive signs of weakness with an average lifespan of 13.3 days.
A17 mice appear normal at birth, but develop a progressive muscle weakness that is accompanied by the formation of mutant PABPN1-containing aggregates in the nuclei of skeletal myocytes.
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