Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Kornak, Uwe

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. [electronic resource] - Brain : a journal of neurology Mar 2014 - 683-92 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2156

10.1093/brain/awt357 doi


Adult
Age of Onset
Bone Diseases--etiology
Cohort Studies
Cough--genetics
Endoplasmic Reticulum--genetics
Exome--genetics
Female
Fractures, Bone--genetics
GTP Phosphohydrolases--genetics
Gastroesophageal Reflux--genetics
Genes, Dominant--genetics
Haplotypes--genetics
Hereditary Sensory and Autonomic Neuropathies--complications
Humans
Intracellular Space--genetics
Male
Mutation
Mutation, Missense--genetics
Pedigree
Phenotype
Young Adult