A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child

Metabolic Brain Disease

Volumn 30, Issue 3, 2015, Pages 681-686

  Mirabelli Badenier, Marisol ^a   Severino, Mariasavina ^a   Tappino, Barbara ^a   Tortora, Domenico ^b   Camia, Francesca ^a   Zanaboni, Clelia ^a   Brera, Fabia ^a   Priolo, Enrico ^a   Rossi, Andrea ^a   Biancheri, Roberta ^a   Di Rocco, Maja ^a   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF CHIETI   (Italy)

Author keywords

Brain MRI; Diffusion tensor imaging; Lysosomal disorder; Mucolipin 1 double mutant allele; Tractography; Transient receptor potential cation channel

Indexed keywords

ALANINE; ASPARAGINE; GASTRIN; LEUCINE; MUCOLIPIN 1; TRANSIENT RECEPTOR POTENTIAL CHANNEL; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; UNCLASSIFIED DRUG; MCOLN1 PROTEIN, HUMAN;

ALLELE; APGAR SCORE; ARTICLE; BASAL GANGLION; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CLINICAL ASSESSMENT; CONVERGENT STRABISMUS; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DIFFUSION TENSOR IMAGING; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; ELECTRORETINOGRAPHY; EVOKED VISUAL RESPONSE; GASTRIN BLOOD LEVEL; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOMICS; HOMOZYGOTE; HUMAN; HYPERGASTRINEMIA; ITALY; LANGUAGE DISABILITY; MALE; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; MUSCLE HYPERTONIA; MYELIN DEFICIENCY; MYOPIA; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PROTEIN DOMAIN; PYRAMIDAL SIGN; QUADRIPLEGIA; SERUM; STOP CODON; TRACTOGRAPHY; WHITE MATTER; CAUCASIAN; DEFICIENCY; GENETICS; MUCOLIPIDOSES; MUTATION;

ALLELES; CHILD, PRESCHOOL; EUROPEAN CONTINENTAL ANCESTRY GROUP; HOMOZYGOTE; HUMANS; ITALY; MALE; MUCOLIPIDOSES; MUTATION; TRANSIENT RECEPTOR POTENTIAL CHANNELS;

EID: 84943014115     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-014-9612-6     Document Type: Article

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