{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:09:32Z","timestamp":1791284972993,"version":"4.1.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/2.0"},{"start":{"date-parts":[[2010,12,3]],"date-time":"2010-12-03T00:00:00Z","timestamp":1291334400000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in <jats:italic>MTM1<\/jats:italic> and involves a severe and generalized muscle weakness at birth. The autosomal dominant form results from <jats:italic>DNM2<\/jats:italic> mutations and has been described with early childhood and adult onset (ADCNM). Autosomal recessive centronuclear myopathy (ARCNM) is less characterized and has recently been associated to mutations in <jats:italic>BIN1<\/jats:italic>, encoding amphiphysin 2. Here we present the first clinical description of intrafamilal variability in two first-degree cousins with a novel <jats:italic>BIN1<\/jats:italic> stop mutation. In addition to skeletal muscle defects, both patients have mild mental retardation and the more severely affected male also displays abnormal ventilation and cardiac arrhythmia, thus expanding the phenotypic spectrum of <jats:italic>BIN1<\/jats:italic>-related CNM to non skeletal muscle defects. We provide an up-to-date review of all previous cases with ARCNM and <jats:italic>BIN1<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1186\/1750-1172-5-35","type":"journal-article","created":{"date-parts":[[2010,12,3]],"date-time":"2010-12-03T19:14:05Z","timestamp":1291403645000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":58,"title":["Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation"],"prefix":"10.1186","volume":"5","author":[{"given":"Johann","family":"B\u00f6hm","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulu\u00e7","family":"Yi\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rag\u0131p","family":"Orta\u00e7","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Handan","family":"\u00c7akmak\u00e7\u0131","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semra H\u0131z","family":"Kurul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eray","family":"Dirik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,12,3]]},"reference":[{"key":"198_CR1","doi-asserted-by":"publisher","first-page":"1484","DOI":"10.1212\/01.WNL.0000124388.67003.56","volume":"62","author":"PY Jeannet","year":"2004","unstructured":"Jeannet PY, Bassez G, Eymard B, et al: Clinical and histologic findings in autosomal centronuclear myopathy. 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