Dystrophinopathies, congenital muscular dystrophy and limb-girdle muscular dystrophies: Current classification;Distrofinopatias, distrofia muscular congenita y distrofias de cinturas: Clasificacion actualizada

Revista de Neurologia

Volumn 26, Issue 154, 1998, Pages 1021-1026

  Teijeira Bautista, S ^a  

^a HOSPITAL DO MEIXOEIRO   (Spain)

Author keywords

Calpain; Dystrophin; Dystrophin associated proteins; Limb girdle muscular dystrophy; Merosin; Sarcoglycan complex

Indexed keywords

DYSTROPHIN; SCLEROPROTEIN; CALPAIN; CYTOSKELETON PROTEIN; DAG1 PROTEIN, HUMAN; DYSTROGLYCAN; LAMININ; MEMBRANE PROTEIN; MUSCLE PROTEIN; SARCOGLYCAN;

BECKER MUSCULAR DYSTROPHY; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DUCHENNE MUSCULAR DYSTROPHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PRACTICE GUIDELINE; PROTEIN ANALYSIS; PROTEIN DEFECT; REVIEW; SKELETAL MUSCLE; WESTERN BLOTTING; CHROMOSOME MAP; CLASSIFICATION; FEMALE; GENETICS; HUMAN; HUMAN CHROMOSOME; INFANT; MACROMOLECULE; MALE; NEWBORN; PRESCHOOL CHILD;

CALPAIN; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; DYSTROPHIN; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LAMININ; MACROMOLECULAR SUBSTANCES; MALE; MEMBRANE GLYCOPROTEINS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES; SARCOGLYCANS;

EID: 0032296782     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.26154.98010     Document Type: Review

References (8)

1. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne Muscular Dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-17.
2. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-28.
3. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts rod-shaped cytoskeletal protein. Cell 1988; 53: 219-28.
4. Ben Hamida M, Marakchi D. Dystrophie musculaire progressive de type Duchenne en Tunisie. A propos de 13 familles et 31 cas d'une forme en apparence récessive autosomique. J Génét Hum 1980; 28: 1-9.
5. Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983; 6: 469-80.
6. Campbell KP, Kahl SD. Association of dystrophin and an integral membrane glycoprotein. Nature 1989; 338: 259-62.
7. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992; 355: 696-702.
8. Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993; 122: 809-23.