TY - JOUR
T1 - Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW
AU - Granadillo, Jorge L.
AU - Moss, Timothy
AU - Lewis, Richard A.
AU - Austin, Elise G.
AU - Kelfer, Howard
AU - Wang, Jing
AU - Wong, Lee Jun C.
AU - Scaglia, Fernando
PY - 2014
Y1 - 2014
N2 - We report a patient harboring a de novo m.5540G>A mutation affecting the MT-TW gene coding for the mitochondrial tryptophan-transfer RNA. This patient presented with atonic-myoclonic epilepsy, bilateral sensorineural hearing loss, ataxia, motor regression, ptosis, and pigmentary retinopathy. Our proband had an earlier onset and more severe phenotype than the first reported patient harboring the same mutation. We discuss her clinical presentation and compare it with the only previously published case.
AB - We report a patient harboring a de novo m.5540G>A mutation affecting the MT-TW gene coding for the mitochondrial tryptophan-transfer RNA. This patient presented with atonic-myoclonic epilepsy, bilateral sensorineural hearing loss, ataxia, motor regression, ptosis, and pigmentary retinopathy. Our proband had an earlier onset and more severe phenotype than the first reported patient harboring the same mutation. We discuss her clinical presentation and compare it with the only previously published case.
KW - Ataxia
KW - MT-TW gene
KW - Mitochondrial DNA
KW - Pigmentary retinopathy
KW - Sensorineural hearing loss
UR - http://www.scopus.com/inward/record.url?scp=84905190088&partnerID=8YFLogxK
U2 - 10.1016/j.ymgmr.2013.12.001
DO - 10.1016/j.ymgmr.2013.12.001
M3 - Article
AN - SCOPUS:84905190088
SN - 2214-4269
VL - 1
SP - 61
EP - 65
JO - Molecular Genetics and Metabolism Reports
JF - Molecular Genetics and Metabolism Reports
IS - 1
ER -