@dpavot:29453416
Annnotations
PGR-FAL
{"project":"PGR-FAL","denotations":[{"id":"T1","span":{"begin":190,"end":195},"obj":"25802"},{"id":"T2","span":{"begin":139,"end":147},"obj":"HP:0003745"}],"relations":[{"id":"R1","pred":"false","subj":"T2","obj":"T1"}],"text":"The molecular basis of this condition started to be defined recently, and the genes related to the syndrome (ACTG2-heterozygous variant in sporadic cases; and MYH11 (myosin heavy chain 11), LMOD1 (leiomodin 1) and MYLK (myosin light chain (MLC) kinase)-autosomal recessive inheritance), encode proteins involved in the smooth muscle contraction, supporting a myopathic basis for the disease."}