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:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The severe infantile form of myotubular myopathy is a fatal muscle disease that predominantly affects male infants and is characterized by severe weakness and
hypotonia
from birth. X-linked myotubular myopathy was found to be associated with mutations in the MTM1 gene in Xq28 encoding the
putative tyrosine phosphatase
, myotubularin. We screened the MTM1 gene for mutations in seven Japanese patients (six males and one female) who had the diagnosis of severe infantile form of myotubular myopathy. We found five mutations, including three novel mutations based on sequence analysis of RT-PCR fragments covering the entire open reading frame. Two patients (one male and one female), who had similar clinicopathologic features, did not have any mutation in the MTM1 gene open reading frame, suggesting that they may have had an autosomal recessive disease.
...
PMID:MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. 982 74
