Spectrum of floppy children in Indian scenario

Indian Pediatrics

Volumn 38, Issue 11, 2001, Pages 1236-1243

  Dua, T ^a   Das, M ^a   Kabra, M ^a   Bhatia, M ^a   Sarkar, C ^a   Arora, S ^a   Sharma, M C ^a   Kalra, Veena ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Congenital muscular dystrophy; Floppy children; Hypotonia; SMNT gene; Spinal muscular atrophy

Indexed keywords

NERVE PROTEIN; SMN PROTEIN (SPINAL MUSCULAR ATROPHY);

ARTICLE; CHILD; ELECTROMYOGRAPHY; EXON; FEMALE; GENE DELETION; GENETICS; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; INFANT; MALE; MUSCLE HYPOTONIA; PATHOLOGY; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; ELECTROMYOGRAPHY; EXONS; FEMALE; GENE DELETION; HUMAN; INFANT; MALE; MUSCLE HYPOTONIA; NERVE TISSUE PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 0035515937     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Pearn J. Spinal muscular atrophies. In: Principles and Practices of Medical Genetics. Eds. Emery AEH, Rimoin DL, New York, Churchill and Livingstone, 1990; pp 414-425.
2. Dubowitz V. Diagnosis and classification of the neuromuscular disorders. In: Muscle Disorders in Childhood, 2nd edn. Ed. Dubowitz V. Philadelphia, W.B. Saunders Co. 1995; pp 1-33.
3. Emergy AEH. Population frequencies in inherited neuromuscular diseases: A world survey. Neuromusc Disord 1991; 1: 19-29.
4. Brzutowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels RJ, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990; 344: 540-541.
5. Giliam TC, Brzustowicz LM, Castilla LH, Lehner T. Penchaszadeh GK, Daniels RJ, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990; 345: 823-825.
6. Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, et al. Gene for proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990; 344: 767-768.
7. Lafebvre S, Burgles L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy determining gene. Cell 1995; 80: 155-165.
8. Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995; 80: 167-178.
9. Hahnen E, Forkert R, Marke C, Rudnik-Schoneborn R, Schonling J, Zerrers K, et al. Molecular analysis of candidate gene on chronosome 5q13 in autosomal recessive spinal muscular atrophy-incidence of homozygous deletion of the SMN gene in unaffected individuals. Hum Mol Genet 1995; 4: 1927-1933.
10. Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CHCM, Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 1995; 57: 805-808.
11. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995; 4: 631-634.
12. Somerville MJ, Hunter AGW, Aubry HL. Clinical application of the molecular diagnosis of spinal muscular atrophy: Deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes. Am J Med Genet 1997; 69: 159-165.
13. Chang JG, Jong YJ, Lin SP, Soong BW, Tsai CH, Yang YJ, et al. Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents. Hum Genet 1997; 100: 577-581.
14. Van der Steege G, Grootscholten PM, van der Vlies P, Draijers TG, Osinga J, Cobben JM, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995; 345: 985-986.
15. Packer RJ, Brown MJ, Berman PH. The diagnostic value of electromyography in infantile hypotonia. Am J Dis Child 1982; 136: 1057-1059.
16. David WS Jones HR. Electromyography and biopsy correlation with suggested protocol for evaluation of the floppy infant. Muscle Nerve 1994; 17: 424-430.
17. Chiou SS, Chang TT, Chen PH, Lee LS, Chen TS, Chang JG. Molecular basis and hematological characterization of β-thalassemia major in Taiwan, with a mutation of IVS-1 3′ end TAG-GAG in a Chinese patient. Br J Hematol 1993; 83: 112-117.
18. Munsat TL, Davies KF. International SMA consortium meeting. Neuromusc Disord 1992; 2: 423-428.
19. Walton JH. The limp child. J Neuro Psychiatr 1957; 20: 144-154.
20. Barkovich AJ. Neuroimaging manifestations and classification of congenital muscular dystrophies. Am J Neuroradiol 1998; 19: 1389-1396.
21. Voit T. Congenital muscular dystrophies: 1997 Update. Brain Dev 1998; 20: 65-74.
22. Burghes AHM. When is a deletion not a deletion? When it is converted. Am J Hum Genet 1997; 61: 9-15.
23. Gambardella A, Mazzei R, Toscano A, Annesi G, Pasqua A, Annesi F, et al. Spinal muscular atrophy due to an isolated deletion of exon 8 of the telemeric survival motor neuron gene. Ann Neurol 1998; 44: 836-839.
24. Stevens G, yawitch T, Rodda J, Verhaart S, Krause A. Different molecular basis for spinal muscular atrophy in South African black patients. Am J Med Genet 1999; 86: 420-426.