PMID: 11579420

Munnich A, Rustin P
Clinical spectrum and diagnosis of mitochondrial disorders.
Am J Med Genet. 2001 Spring;106(1):4-17., [PubMed]
Sentences
No. Mutations Sentence Comment
136 ABCC8 p.Ala1555Gly
X
ABCC8 p.Ala1555Gly 11579420:136:241
status: NEW
view ABCC8 p.Ala1555Gly details
 Interestingly, variable degrees of non-syndromic sensorineural hearing loss following amino-glycoside exposure have been described in individuals carrying a homoplasmic mitochondrial tRNASer (T7445C) [Reid et al., 1994] or 12S RNA mutation (A1555G) [Prezant et al., 1993; Matthijs et al., 1996; El-Schahawi et al., 1997; Estivill et al., 1998]. Login to comment 141 ABCC8 p.Ala1555Gly
X
ABCC8 p.Ala1555Gly 11579420:141:109
status: NEW
view ABCC8 p.Ala1555Gly details
 The major clinical relevance of this is the prevention of antibiotic-induced hearing loss, especially as the A1555G mutation accounts for 15% of all cases of amino-glycoside-induced deafness in the USA [Fischel-Ghodsian, 1998]. Login to comment