Publication
| Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH, Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy Neurology81:1205-14 2013 |
| PubMed ID: 23975875 |
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| Records Return:
(4)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM25993 | Female | 71 YR | 3304 | grandmother | MYOPATHY, CENTRONUCLEAR, 1; CNM1 | GM |
| GM23417 | Male | 9 YR | 3304 | proband | MYOPATHY, CENTRONUCLEAR, 1; CNM1 | GM |
| GM25948 | Male | 49 YR | 3304 | father | MYOPATHY, CENTRONUCLEAR, 1; CNM1 | GM |
| GM25936 | Male | 14 YR | 3304 | proband | MYOPATHY, CENTRONUCLEAR, 1; CNM1 | GM |
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