Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000244
Abstract: Hereditary axonal motor and sensory neuropathy or Charcot-Marie-Tooth type 2 (CMT2) is a common inherited peripheral neuropathy. Major symptomatologic signs vary from minimal to significant weakness and loss of sensation, feet usually affected more than… read more here.
Keywords: sensory neuropathy; saudi arabian; axonal motor; motor sensory ... See more keywords
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children
Sign Up to like & getrecommendations! Published in 2024 at "Journal of the Peripheral Nervous System"
DOI: 10.1111/jns.12617
Abstract: The genetic epidemiology of inherited neuropathies in children remains largely unknown. In this study, we specifically investigated the genetic profile of a Brazilian cohort of pediatric patients with pure or complex axonal neuropathies, a crucial… read more here.
Keywords: axonal neuropathy; analyzing brazilian; hereditary axonal; neuropathy analyzing ... See more keywords