Diagnosis of dystrophinopathy by skin biopsy

Muscle and Nerve

Volumn 25, Issue 3, 2002, Pages 398-401

  Niiyama, Takahito ^a,c   Higuchi, Itsuro ^a   Sakoda, Shunichi ^a   Matsumura, Tsuyoshi ^a   Fukunaga, Hidetoshi ^b   Osame, Mitsuhiro ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b TONEYAMA NATIONAL HOSPITAL   (Japan)

^c Minami Kyushu Hospital   (Japan)

Author keywords

Arrector pili muscle; Duchenne Becker muscular dystrophy; Dystrophin; Dystrophinopathy; Skin biopsy

Indexed keywords

DYSTROPHIN;

AMINO TERMINAL SEQUENCE; ARTICLE; BECKER MUSCULAR DYSTROPHY; DIAGNOSTIC TEST; DNA DETERMINATION; DUCHENNE MUSCULAR DYSTROPHY; FROZEN SECTION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SKIN BIOPSY;

BIOPSY; HAIR FOLLICLE; HUMANS; MUSCULAR ATROPHY, SPINAL; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, DUCHENNE; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; NEUROMUSCULAR DISEASES; SKIN;

EID: 0036194710     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10040     Document Type: Article

References (18)

1. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide
2. Mosaic expression of dystrophin on symptomatic carriers of Duchenne's muscular dystrophy
3. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
4. Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface
5. The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle
6. Ultrastructural localization of dystrophin in human muscle by using gold immunolabelling
7. Characteristic expression of cell adhesion molecules in adhalin deficiency
8. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
9. Subcellular fractionation of dystrophin to the triads of skeletal muscle
10. Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase techniques: A comparison between ABC and unlabeled antibody (PAP) procedures
11. A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms
12. Immunohistochemical study of merosin-negative congenital muscular dystrophy: Laminin alpha 2 deficiency in skin biopsy
13. Dystrophin expression in skin biopsy. Immunohistochemical localisation of striated muscle type dystrophin
14. Possible systemic smooth muscle layer dysfunction due to a deficiency of dystrophin in Duchenne muscular dystrophy
15. Localization and characterization of dystrophin in the central nervous system of controls and patients with Duchenne muscular dystrophy
16. Dystrophin negative skeletal and myocardial muscle cells in a carrier of Duchenne's muscular dystrophy
17. Dystrophin: A clinical perspective
18. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle