Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0700208 (
scoliosis
)
8,574
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
STIM1
is a reticular Ca
2+
sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis, short stature and dyslexia. Here we present the case of a 41-year-old female complaining of exercise intolerance. Clinical examination showed short stature,
scoliosis
, proximal muscle weakness with lower limb predominance, and ophthalmoplegia. Laboratory tests revealed hypocalcemia, mild anemia and elevated creatine kinase (CK) levels. Whole-body muscle magnetic resonance imaging (MRI) revealed asplenia. Muscle biopsy was consistent with TAM.
STIM1
gene analysis disclosed the novel c.252T>A, p.D84E missense mutation which was shown to induce constitutive
STIM1
clustering in a functional study. This study reports a novel
STIM1
mutation located in the Ca
2+
-binding EF domain causing TAM with features of Stormorken syndrome.
...
PMID:Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation. 2787 57
