Histopathologic progression and a novel mutation in a child with nemaline myopathy

Journal of Child Neurology

Volumn 23, Issue 7, 2008, Pages 813-817

  Ladha, Shafeeq ^a,b   Coons, Stephen ^b   Johnsen, Stanley ^b   Sambuughin, Nyamkhishig ^c   Bien Wilner, Ricardo ^a   Sivakumar, Kumaraswamy ^a,b  

^a Neuromuscular Research Center   (United States)

^b BARROW NEUROLOGICAL INSTITUTE   (United States)

^c UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

Author keywords

Actin; Congenital myopathy; Nemaline myopathy; Rod body

Indexed keywords

ADENINE; ASPARAGINE; GUANINE; NEBULIN; OXIDOREDUCTASE; SERINE;

ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; DEVELOPMENTAL DISORDER; DISEASE COURSE; ELECTRON MICROSCOPY; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOME ANALYSIS; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HYPOREFLEXIA; INFANT; INTENSIVE CARE UNIT; MALE; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEMALINE MYOPATHY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; RECTUS ABDOMINIS MUSCLE; RESPIRATORY FAILURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; THIN FILAMENT;

ACTINS; BIOPSY; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; MUSCLE, SKELETAL; MYOPATHIES, NEMALINE;

EID: 47349104542     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808314363     Document Type: Article

References (13)

1. Shy GM, Engel WK, Somer JE, Wanko T. Nemaline myopathy: A new congenital myopathy. Brain. 1963;86:793-810.
2. North KN, Laing NG, Wallgren-Pettersson C.; ENMS International Consortium on Nemaline Myopathy. Nemaline myopathy: Current concepts [published correction appears in J Med Genet. 1997; 34 (10): 879]. J Med Genet. 1997;34(9):705-713.
3. Gurgel-Giannetti J., Reed UC, Marie SK, et al. Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. J Child Neurol. 2003;18(3):235-240.
4. Wallgren-Pettersson C., Rapola J., Donner M. Pathology of congenital nemaline myopathy: A follow-up study. J Neurol Sci. 1988;83(2-3):243-257.
5. Karpati G., Carpenter S., Andermann F. A new concept of childhood nemaline myopathy. Arch Neurol. 1971;24(4):291-304.
6. Nienhuis AW, Coleman RF, Brown WJ, et al. Nemaline myopathy: A histopathologic and histochemical study. Am J Clin Pathol. 1967;48(1):1-13.
7. Wallgren-Pettersson C., Laing NG 109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, the Netherlands. Neuromuscul Disord. 2003;13(6):501-507.
8. Goebel HH, Piirsoo A., Warlo I., et al. Infantile intranuclear rod myopathy. J Child Neurol. 1997;12(1):22-30.
9. Itakura Y., Ogawaa Y., Murakami N., Nonaka I. Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: A case report. Brain Dev. 1998;20(2):112-115.
10. Kaimaktchiev V., Goebel H., Laing N., et al. Intranuclear nemaline rod myopathy. Muscle Nerve. 2006;34(3):369-372.
11. Suwa K., Mizuguchi M., Momoi MY, et al. Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy. Neuropathology. 2002;22(4):294-298.
12. Ryan MM, Ilkovski B., Strickland CD, et al. Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology. 2003;60(4):665-673.
13. Corbett MA, Robinson CS, Dunglison GF, et al. A mutation in α-tropomyosinslow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet. 2001;10(4):317-328.