Genetics of pediatric neuromuscular disease

Current Opinion in Pediatrics

Volumn 12, Issue 6, 2000, Pages 549-553

  Strober, Jonathan B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; MYELIN; NUCLEAR PROTEIN;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOMAL LOCALIZATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; SPINAL MUSCULAR ATROPHY;

CHILD; HUMANS; MOTOR NEURON DISEASE; MUSCULAR DISEASES; NEUROMUSCULAR DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 0033739735     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200012000-00006     Document Type: Review

References (18)

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2. Spinal muscular atrophy
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4. SMNt and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): Genotype/phenotype correlations with disease severity
5. Hereditary peripheral neuropathies: Clinical forms, genetics, and molecular mechanisms
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7. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-21.3
8. Molecular genetics and biology of inherited peripheral neuropathies: A fast moving field
9. Introduction to muscular dystrophy
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11. Congenital muscular dystrophy: An expanding clinical syndrome
12. Making sense of the limb-girdle muscular dystrophies
13. Myotilin, a novel sarcomeric protein with two lg-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
14. Calpain III mutation analysis of a heterogenous limb-girdle muscular dystrophy population
15. Plasma membrane cytoskeleton of muscle: A fine structural analysis
16. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
17. Developments in gene therapy for muscular dystrophy
18. Progress in myoblast transplantation: A potential treatment of dystrophies