{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T23:40:46Z","timestamp":1723160446511},"reference-count":14,"publisher":"FapUNIFESP (SciELO)","issue":"2A","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2003,6]]},"abstract":"<jats:p>Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental.<\/jats:p>","DOI":"10.1590\/s0004-282x2003000200019","type":"journal-article","created":{"date-parts":[[2005,4,15]],"date-time":"2005-04-15T14:34:57Z","timestamp":1113575697000},"page":"262-264","source":"Crossref","is-referenced-by-count":1,"title":["Myotonia congenita and myoadenylate deaminase deficiency: case report"],"prefix":"10.1590","volume":"61","author":[{"given":"Rosana Herminia","family":"Scola","sequence":"first","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio Massaiti","family":"Iwamoto","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Henrique","family":"Camargo","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter Oleschko","family":"Arruda","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lineu Cesar","family":"Werneck","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/mus.880180216","article-title":"Muscle AMP deaminase deficiency in 2% of a healthy population","volume":"18","author":"Norman B","year":"1995","journal-title":"Muscle 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