Clinical spectrum of AIFM1 ‐associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness

Volume: 24, Issue: 4, Pages: 348 - 353
Published: Oct 10, 2019
Abstract
Mutations in apoptosis-inducing factor mitochondrion-associated-1 (AIFM1) cause X-linked peripheral neuropathy (Cowchock syndrome, CMT4X); however, more recently a cerebellar presentation has been described. We describe a large Irish family with seven affected males. They presented with a variable age of onset, 18 months to 39 years of age. All developed variably present sensorineural deafness, peripheral neuropathy, cerebellar ataxia, and...
Paper Details
Title
Clinical spectrum of AIFM1 ‐associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness
Published Date
Oct 10, 2019
Volume
24
Issue
4
Pages
348 - 353
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