4 結果
OBJECTIVE
To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy.
METHODS
We performed molecular genetic, histochemical, immunoblot, and ultrastructural studies, investigated
D-penicillamine, a drug used to treat rheumatoid arthritis, Wilson's disease, and cystinuria, can cause myasthenia gravis. Fortunately, the myasthenia typically resolves after discontinuation of the drug. The diagnosis may be missed if weakness is blamed on a patient's underlying disease(s), in
Calmodulin lysine methyl transferase (CaM KMT) is ubiquitously expressed and highly conserved from plants to vertebrates. CaM is frequently trimethylated at Lys-115, however, the role of CaM methylation in vertebrates has not been studied. CaM KMT was found to be homozygously deleted in the 2P21
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT