Sarcoglycanopathies;Sarcoglicanopatias

Revista de Neurologia

Volumn 28, Issue 2, 1999, Pages 150-153

  Colomer, J ^a  

^a Sant Joan de Deu Children's Hospital   (Spain)

Author keywords

Dystrophin; Dystrophin associated glycoproteins; Dystrophinlated proteins; Sarcoglycanopathies; sarcoglycan; sarcoglycan; sarcoglycan; sarcoglycan

Indexed keywords

DYSTROPHIN; SARCOGLYCAN; UTROPHIN; GLYCOPROTEIN;

DISEASE ASSOCIATION; DISEASE SEVERITY; GENE MUTATION; HEART DISEASE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCULAR DYSTROPHY; PHENOTYPE; PROTEIN DEFICIENCY; PROTEIN LOCALIZATION; REVIEW; SARCOGLYCANOPATHY; ADULT; CHILD; GENETICS; POINT MUTATION; PRESCHOOL CHILD; SARCOLEMMA;

ADULT; CHILD; CHILD, PRESCHOOL; DYSTROPHIN; GLYCOPROTEINS; HUMANS; MUSCULAR DYSTROPHIES; PHENOTYPE; POINT MUTATION; SARCOLEMMA;

EID: 0033573597     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.2802.98364     Document Type: Review

References (4)

1. Monaco AP, Kunkel LM. Cloning of the Duchenne/Becker muscular dystrophy locus. Am J Hum Genet 1988; 17: 98.
2. Koenig M, Monaco AP, Kunkel LM. The complet sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988; 53: 219-28.
3. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-28.
4. Hoffman EP, Fischbeck KH, Brown RH, Jonhson M, Medori R, Loike JD, et al. Characterization of dystrophin in musde-byopsy specimens from patients with Duchenne or Becker muscular dystrophy. N Engl J Med 1988; 318: 1363-8.