PedAM
Pediatric Disease Annotations & Medicines
| Disease | neuropathy |
| Phenotype | C0029124|optic atrophy |
| Sentences | 5 |
| PubMedID- 22492563 | Interestingly, the clinical manifestations among mutational carriers in this tunisian family were even more variable, ranging from asymptomatic subclinical disease to an axonal sensorimotor neuropathy complicated by optic atrophy, deafness, cerebellar ataxia and proximal myopathy. |
| PubMedID- 25802885 | Previously this mutation was described causing hereditary motor and sensory neuropathy with optic atrophy (hmsn6; omim#601152) in two separate families (chung et al. |
| PubMedID- 22815638 | This phenotypic association of peripheral neuropathy with optic atrophy is also present in hereditary motor and sensory neuropathy type vi with optic atrophy (omim 601152) caused by mutations in mitofuscin 2 (mfn2) [10], encoding another mitochondrial protein, emphasizing the important role of mitochondrial function for optic atrophies and peripheral neuropathies. |
| PubMedID- 23626640 | The patient was a 65 years old man with hypertension who had been monitored for dry age-related macular degeneration for the last two years in ophthalmology department of university hospital, kırıkkale, turkey, 2009. he also had optic atrophy due to anterior optic neuropathy in the left eye diagnosed two years previously. |
| PubMedID- 22776096 | (cmt2a) is a peripheral distal neuropathy with optic atrophy designated as hereditary motor and sensory neuropathy type vi (hmsn vi)[96]. |
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