@article{
 title = {Hereditary motor and sensory neuropathy with agenesis of the corpus callosum},
 type = {article},
 year = {2003},
 identifiers = {[object Object]},
 keywords = {Adolescent,Adult,Atrophy/pathology,Brachial Plexus Neuritis/epidemiology,Brain/pathology,Child,Child, Preschool,Cognition Disorders/epidemiology,Comorbidity,Corpus Callosum/*abnormalities,Electromyography,Exons/genetics,Female,Gene Deletion,Genotype,Hereditary Motor and Sensory,Homozygote,Human,Infant,Infant, Newborn,Magnetic Resonance Imaging,Male,Median Nerve/physiopathology,Muscle Hypotonia/epidemiology,Neural Conduction/physiology,Neuropathies/epidemiology/*genetics/physiopatholog,Point Mutation/genetics,Quebec/epidemiology,Reflex, Abnormal/physiology,Support, Non-U.S. Gov't,Symporters/genetics},
 pages = {9-18},
 volume = {54},
 id = {99285bba-7525-3fd4-81d8-6fb91fc4d581},
 created = {2017-06-19T13:45:18.932Z},
 file_attached = {true},
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 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:19.076Z},
 tags = {04/09/01},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article<m:linebreak/>Review<m:linebreak/>Review of Reported Cases</m:note>},
 abstract = {Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. Although this disorder has rarely been reported worldwide, it has a high prevalence in the Saguenay-Lac-St-Jean region of the province of Quebec (Canada) predominantly because of a founder effect. The gene defect responsible for this disorder recently has been identified, and it is a protein-truncating mutation in the SLC12A6 gene, which codes for a cotransporter protein known as KCC3. Herein, we provide the first extensive review of this disorder, covering epidemiological, clinical, and molecular genetic studies.},
 bibtype = {article},
 author = {Dupre, N and Howard, H C and Mathieu, J and Karpati, G and Vanasse, M and Bouchard, J P and Carpenter, S and Rouleau, G A},
 journal = {Ann Neurol},
 number = {1}
}

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