Clin Chem. 1977 Dec;23(12):2341-3.

Diminished cap formation in lymphocytes from patients and carriers of Duchenne muscular dystrophy.

Abstract

Currently, the most useful clinical laboratory aid in establishing the carrier state of Duchenne muscular dystrophy is to determine creatine kinase (EC 2.7.3.2) activity in the plasma. The considerable overlap between plasma creatine kinase activities of controls and of carriers at the childbearing age contributes appreciable difficulty to genetic counseling of potential carriers. The consistent failure of lymphocyte cap formation in Duchenne muscular dystrophy patients and carriers in this study suggests a valuable tool for the confirmation of the carrier state.

PMID:: 923085; [PubMed - indexed for MEDLINE]

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Research Support, U.S. Gov't, P.H.S.

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Creatine Kinase

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Muscular Dystrophy - MedlinePlus Health Information

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The contribution of assays for lymphocyte capping and creatine kinase to detection of the Becker-type dystrophy trait. [Clin Chem. 1980]
The contribution of assays for lymphocyte capping and creatine kinase to detection of the Becker-type dystrophy trait.
Goldsmith BM, Gruemer HD, Hawley RJ, Pickard NA, Verrill HL, Nance WE, Miller G, Crawford RG. Clin Chem. 1980 May; 26(6):754-9.
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Capping of lymphocytes for carrier detection in Duchenne muscular dystrophy: technical problems and a review of the literature.
Ho AD, Reitter B, Stojakowits S, Fiehn W, Weisser J. Eur J Pediatr. 1980 Sep; 134(3):211-6.
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Percy ME, Chang LS, Murphy EG, Oss I, Verellen-Dumoulin C, Thompson MW. Muscle Nerve. 1979 Sep-Oct; 2(5):329-39.
Review Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. [Hum Genet. 1984]
Review Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.
Moser H. Hum Genet. 1984; 66(1):17-40.
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Review [Duchenne-type muscular dystrophy: problems, early diagnosis, early treatment (author's transl)].
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Cited by 3 PubMed Central articles

Carrier detection in Duchenne muscular dystrophy. [J Med Genet. 1980]
Carrier detection in Duchenne muscular dystrophy.
Fitzsimmons JS, McLachlan JI, Reeves WG, Marriott DW, Woolfson AM, Mayhew J. J Med Genet. 1980 Jun; 17(3):165-9.
Abnormal collagen metabolism in cultured skin fibroblasts from patients with Duchenne muscular dystrophy. [Proc Natl Acad Sci U S A. 1984]
Abnormal collagen metabolism in cultured skin fibroblasts from patients with Duchenne muscular dystrophy.
Rodemann HP, Bayreuther K. Proc Natl Acad Sci U S A. 1984 Aug; 81(16):5130-4.
Impaired HLA capping capacity of peripheral blood lymphocytes in Duchenne muscular dystrophy. [J Med Genet. 1984]
Impaired HLA capping capacity of peripheral blood lymphocytes in Duchenne muscular dystrophy.
Sensi A, Venturoli A, Traniello S, Lucci M, Vullo C, Conighi C, Mattiuz PL, Båricordi OR. J Med Genet. 1984 Jun; 21(3):182-5.

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