Molecular analysis and electromyoneurographic abnormalities in Croatian children with proximal spinal muscular atrophies

Clinical Chemistry and Laboratory Medicine

Volumn 36, Issue 8, 1998, Pages 667-669

  Barišić, Nina ^a   Sertić, Jadranka ^a,b   Billi, Christopher ^c   Barić, Ivo ^a   Sarnavka, Vladimir ^a   Babić, Tomislav ^a   Hrabač, Pero ^a   Begović, Davor ^a   Florentin, Lina ^c   Stavljenić Rukavina, Ana ^a  

^a UNIVERSITY OF ZAGREB   (Croatia)

^b UNIVERSITY OF ZAGREB   (Croatia)

^c NONE

Author keywords

Electromyoneurography; Genetic abnormalities; Spinal muscular atrophy

Indexed keywords

INHIBITOR PROTEIN; NEURONAL APOPTOSIS INHIBITORY PROTEIN; UNCLASSIFIED DRUG;

APOPTOSIS; CONFERENCE PAPER; DISEASE SEVERITY; DNA DETERMINATION; ELECTROMYOGRAPHY; EXON; GENE DELETION; HUMAN; HUMAN CELL; MOTONEURON; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; NERVE FIBER DEGENERATION; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY;

CHILD; CHILD, PRESCHOOL; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; ELECTROMYOGRAPHY; HUMANS; INFANT; INFANT, NEWBORN; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PHENOTYPE; RNA-BINDING PROTEINS; SEVERITY OF ILLNESS INDEX;

EID: 0344074612     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.1998.119     Document Type: Conference Paper

References (13)

1. Dubowitz V. Chaos in classification of spinal muscular atrophies of childhood. Neuromusc Disord 1991; 1:77-80.
2. Zerres K, Schoneborn SR. Natural history in proximal spinal muscular atrophy. Arch Neurol 1995; 52:518-23.
3. Murayama S, Bouldin TW, Suzuki K. Immunocytochemical and ultrastructural studies of Werdnig Hoffmann disease. Acta Neuropathol 1991; 81:408-17.
4. Roy N, Mahadevan MS, McLean M, Shutler G, Yaragi Z, Farahani R, et al. The gene for neuronal apopotosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995; 80:167-78.
5. Lefebvre S, Bürglein L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy determining gene. Cell 1995; 80:155-65.
6. Melki J, Lefebvre S, Bürglen L, Burleit P, Clermont O, Millasseau P, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994; 264: 1474-7.
7. Brahe C, Servidei S, Zappata S, Ricci E, Tonalui P, Neri G. Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet 1995; 346:741-2.
8. Hahnen E, Forkert R, Marke C, Rudnik-Schoneborn S, Wirt B. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995; 4:1927-33.
9. Munsat TL. Workshop report. International SMA collaboration. Neuromuscul Disord 1991; 1:81.
10. Van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995; 345:985-6.
11. Di Donato CJ, Ingraham S, Mendell JR, Prior TW, Moxley R, Florence J. Deletion and conversion in spinal muscular atrophy patients: is there a relationship severity? Ann Neurol 1997; 41:230-7.
12. Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997; 61:40-50.
13. Parano E, Pavone E, Falsaperla R, Trifletti R, Wang Ch. Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy. Ann Neurol 1996; 50:247-51.