Publication
| Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE, Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis European journal of human genetics : EJHG20:999-1003 2012 |
| PubMed ID: 22378277 |
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| Records Return:
(4)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM17726 | Female | 48 YR | 2217 | proband | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A | GM |
| GM16352 | Female | | 1948 | sister | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | GM |
| GM16348 | Female | | 1948 | proband | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | GM |
| GM16351 | Male | | 1948 | brother | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | GM |
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