Mutation in FAM134B causing severe hereditary sensory neuropathy.

Murphy, Sinéad M

Mutation in FAM134B causing severe hereditary sensory neuropathy. [electronic resource] - Journal of neurology, neurosurgery, and psychiatry Jan 2012 - 119-20 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1468-330X

10.1136/jnnp.2010.228965 doi


Child
Codon, Nonsense--genetics
Female
Hereditary Sensory and Autonomic Neuropathies--genetics
Homozygote
Humans
Intracellular Signaling Peptides and Proteins
Membrane Proteins
Neoplasm Proteins--genetics
Neuropsychological Tests