Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: A case report

Neuropediatrics

Volumn 32, Issue 5, 2001, Pages 267-270

  Buxmann, H ^a   Schlosser R ^a   Schlote, W ^a   Sewell, A ^a   Nowak, K J ^a   Laing, N G ^a   Loewenich, V V ^a  

^a UNIVERSITY HOSPITAL FRANKFURT   (Germany)

Author keywords

ACTA1 gene mutation; Carnitine insufficiency; Carnitine substitution; Floppy infant; Nemaline myopathy

Indexed keywords

CARNITINE;

ARTICLE; CASE REPORT; GENE; GENE ACTA1; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; INFANTILE HYPOTONIA; MALE; MUSCLE WEAKNESS; NEMALINE MYOPATHY; NEWBORN; PATHOGENESIS; PRIORITY JOURNAL;

BACTERIAL PROTEINS; BIOPSY; CARNITINE; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE;

EID: 0035207592     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-19122     Document Type: Article

References (24)

1. The congenital myopathies
2. Light and elctronmicroscopic studies of "myogranules" in a child with hypotonia and muscle weakness
3. A mutation in alphatropomyosin (slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy
4. Mutations in the β-tropomyosin (TMP2) gene in rare cases of autosomal dominant nemaline myopathy
5. Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene
6. Immunofluorescence microscopy of a myopathy. α-actinin is a major constituent of nemaline rods
7. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
8. Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1
9. A mutation in the α-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
10. Childhood nemaline myopathy: A review of clinical presentation in relation to prognosis
11. An improved and simplified radioisotopic assay for the determination of free and esterified carnitine
12. A nemaline myopahy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production
13. Nemaline myopathy: Current concepts
14. Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
15. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
16. Methods of carnitine analysis
17. Nemaline myopathy and cardiomyopathy
18. Nemaline myopathy. A new congenital myopathy
19. 40th ENMC Sponsored International Workshop: Nemaline Myopathy
20. α-actinin in nemaline bodies in congenital nemaline myopathy: Immunological confirmation by light and electron microscopy
21. 51st ENMC International Workshop: Nemaline Myopathy
22. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy