Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report four patients in a consanguineous family with focal segmental glomerulosclerosis (FSGS), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and microcephaly or brain atrophy without hiatus hernia. Other characteristic dysmorphic features were convergent strabismus and narrow forehead. One patient had enamel hypoplasia of the upper incisors and deviation of bilateral thumbs to palm side. We could not detect an NPHS2 mutation in this family. We propose that this may be another autosomal recessive syndrome with FSGS and neurological findings.
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PMID:Another autosomal recessive form of focal glomerulosclerosis with neurological findings. 1179 29

Left ventricular hypertrabeculation/noncompaction is a myocardial abnormality of unknown etiology/pathogenesis, which is frequently associated with neuromuscular disorders or chromosomal defects. LVHT in association with a MYOT mutation has not been reported. The patient is a 72-year-old male with a history of strabismus in childhood, asymptomatic creatine-kinase elevation since age 42 years, slowly progressive lower limb weakness since age 60 years, slowly progressive dysarthria and dysphagia since age 62 years, and recurrent episodes of arthralgias and myalgias since age 71 years. He also had arterial hypertension, diverticulosis, hyperlipidemia, coronary heart disease, and a hiatal hernia with reflux esophagitis. Clinical exam revealed mild quadruparesis and proximal wasting of the legs. Whole exome sequencing revealed a known variant in the MYOT gene. Muscle biopsy, previously assessed as inclusion body myopathy, was compatible with the genotype after revision. Cardiologic work-up revealed a left anterior hemiblock, mild myocardial thickening, and noncompaction. This case shows that myotilinopathy may manifest as a multisystem disease, including noncompaction.
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PMID:Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. 3250 53