The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

Brain

Volumn 127, Issue 9, 2004, Pages 2124-2130

  Irobi, Joy ^a   Van Den Bergh, Peter ^c   Merlini, Luciano ^d   Verellen, Christine ^e   Van Maldergem, Lionel ^f   Dierick, Ines ^a   Verpoorten, Nathalie ^a   Jordanova, Albena ^a   Windpassinger, Christian ^g   De Vriendt, Els ^a   Van Gerwen, Veerle ^a   Auer Grumbach, Michaela ^g   Wagner, Klaus ^g   Timmerman, Vincent ^a   De Jonghe, Peter ^a,b,h  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^d RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^e Unite de Genetique Medicale   (Belgium)

^f INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^g MEDICAL UNIVERSITY OF GRAZ   (Austria)

^h UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

BSCL2; Clinical heterogeneity; Distal HMN V; Mutation analysis; seipin gene; Silver syndrome; SPG17

Indexed keywords

GENE PRODUCT; SEIPIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BSCL2 GENE; CHILD; CHROMOSOME 11Q; CLINICAL ARTICLE; CLINICAL FEATURE; DEGENERATIVE DISEASE; FAMILIAL DISEASE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; LEG; LIPODYSTROPHY; MOLECULAR GENETICS; MOTOR NEUROPATHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SILVER RUSSELL SYNDROME; SPASTICITY;

ADOLESCENT; ADULT; CHILD; GENETIC HETEROGENEITY; GTP-BINDING PROTEIN GAMMA SUBUNITS; HAND; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; LEG; MIDDLE AGED; MUSCLE SPASTICITY; MUSCLE WEAKNESS; MUSCULAR ATROPHY; MUTATION; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; SYNDROME;

EID: 4344641102     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh232     Document Type: Article

References (14)

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