title: [Hereditary distal motor neuropathy due to mutation of BSCL2].
authors.affiliation: Centro Hospitalar Barreiro-Montijo, Barreiro, Portugal.
authors.forename: M
authors.initials: M
authors.lastname: Rafael
authors.affiliation: Centro Hospitalar Barreiro-Montijo, Barreiro, Portugal.
authors.forename: C
authors.initials: C
authors.lastname: Lacerda
authors.affiliation: Centro Hospitalar Barreiro-Montijo, Barreiro, Portugal.
authors.forename: E
authors.initials: E
authors.lastname: Goncalves
authors.affiliation: Centro Hospitalar Barreiro-Montijo, Barreiro, Portugal.
authors.forename: S
authors.initials: S
authors.lastname: Rocha
mesh_terms: D017668:Age of Onset; D002648:Child; D018450:Disease Progression; D004576:Electromyography; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics* / Q000502:physiology; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007859:Learning Disabilities / Q000209:etiology; D016472:Motor Neuron Disease / Q000150:complications / Q000235:genetics*; D019957:Motor Skills Disorders / Q000209:etiology; D009133:Muscular Atrophy / Q000209:etiology; D009154:Mutation
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits