A rare cause of high transaminasemia: Autosomal muscle dystrophy with gamma sarcoglycan

Journal of Pediatric Gastroenterology and Nutrition

Volumn 32, Issue 3, 2001, Pages 327-329

  Urganci, N ^a   Erkan, T ^a   Serdaroglu P ^a   Ozcelik G ^a   Dogan S ^a   Kayaalp, N ^a  

^a Cudi Efendi sok   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; SARCOGLYCAN;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CHILD; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAPHY; FEMALE; HUMAN; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE GLYCOPROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; SARCOGLYCANS; TRANSAMINASES;

EID: 0035038674     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005176-200103000-00019     Document Type: Article

References (22)

1. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
2. Genomic screening for beta-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
3. Autosomal recessive muscular dystrophy and mutation of the sarcoglycan complex
4. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
5. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
6. β-sarcoglycan (43 DAG): Characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12
7. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
8. The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD 2F) is caused by mutation in the δ-sarcoglycan gene
9. HyperKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies and merosinopathies
10. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q 11-12
11. Muscular dystrophy misdiagnosed as hepatic disease in a child with celiac disease
12. Diagnosis of occult muscular dystrophy: Importance of the chance finding of evaluated serum aminotransferase activities
13. Prolonged evaluation of transaminase concentration in children with unsuspect myopathy
14. Innocent elevation of aspartate aminotransferase
15. Aldolase in the serum and tissues of tumor-beating animals
16. The clinical significance of transaminase activities of serum
17. Serum enzymes in muscular dystrophy and certain other muscular and neuromuscular diseases
18. Creatine kinase isoenzyme patterns in human tissue obtained at surgery
19. LGMD 2E in Tunusia is caused by a homozygous missense mutation in β-sarcoglycan exon 3
20. Beyond dystrophin: Current progress in the muscular dystrophies
21. Primary adhalinopathy (alpha-sarcoglycanopathy): Clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
22. Concomitant deficiency of beta and gamma-sarcoglycans in 20 alpha sarcoglycan (adhalin) deficient patients