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:C0033377 (
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11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An 11-year-old boy with psychomotor delay, exercise intolerance,
ptosis
and growth delay had a muscle biopsy showing typical mitochondrial alterations (60% of ragged-red fibers and 90% of cytochrome-c oxidase-deficient fibers). Next-generation sequencing revealed a novel heteroplasmic mutation (m.15958A>T) in the
MTTP
gene that encodes tRNA
Pro
. The mutation was not present in the accessible non-muscle tissues of the patient's asymptomatic mother. Mutations in the rarely affected
MTTP
gene are responsible for different clinical presentations. We report the third early-onset case associated with a mutation in this gene. The severity of myopathy is likely related to the high mutation rate (96%) found in the patient's muscle. The clinical heterogeneity associated with
MTTP
mutations illustrates the value of the next-generation sequencing in routine diagnosis of mitochondrial diseases.
...
PMID:A new mutation in the mitochondrial tRNA
Pro
gene associated with early-onset neuromuscular phenotype and ragged-red fibers. 2855 55
