Gene: [0Mh12266/MTTL2] tRNA leucine 2 (mitochondrial); encephalomyopathy, mitochondrial; myopathy, mitochondrial; chronic progressive external ophthalmoplegia? (CPEO; MIM:530000?);
|
PAT |
[1] In a patient with ragged-red muscle fibers and a constellation of
clinical features (including chronic progressive external ophthalmoplegia,
ptosis, pigmentary retinopathy, and sensorineural hearing loss), a
novel point mutation in the MTTL2 gene was found (Fu-1996). The
mutation was identified as a heteroplasmic G-to-A substitution at position
12315 by direct DNA sequencing. This mutation disrupted base pairing in
the
T-psi-C stem of tRNAleu(CUN).
[2] In a patient manifesting an isolated skeletal myopathy, a heteroplasmic A-to-G transition was found at position 12320 in the MTTL2 gene (Weber-1997). The mutation affected the T-psi-C loop at a conserved site. Only skeletal muscle contained the mutation and only this tissue demonstrated a biochemical defect of respiratory chain activity." |
|
GEN |
The gene length: 0.07 kb (71 bp). |
|
REF |
PAT,MUT "Fu K &: Hum Mol Genet, 5, 1835-1840, 1996 PAT,MUT "Weber K &: AJHG, 60, 373-380, 1997 |
|
KEY |
aac, mito, trl |
|
CLA |
coding, basic |
|
LOC |
0M H12266-12336 |
|
MIM |
MIM: 590055 |
