TY - JOUR
T1 - Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples
AU - Straathof, Chiara S. M.
AU - van Heusden, Dave
AU - Ippel, Pieternella F.
AU - Post, Jan G.
AU - Voermans, Nicol C.
AU - de Visser, Marianne
AU - Brusse, Esther
AU - van den Bergen, Janneke C.
AU - van der Kooi, Anneke J.
AU - Verschuuren, Jan J. G. M.
AU - Ginjaar, Hendrika B.
PY - 2016
Y1 - 2016
N2 - The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995. All requests for DNA analysis of the DMD gene in probands with suspected BMD were re-evaluated. If the phenotype was compatible with BMD, and no deletions or duplications were detected, DNA samples were screened for small mutations. In 79 of 185 referrals, no mutation was found. Analysis could be performed on 31 DNA samples. Seven different mutations, including 3 novel ones, were found. Long-term clinical follow-up is described. Refining DNA analysis in previously undiagnosed cases can identify mutations in the DMD gene and provide genetic diagnosis of BMD. A delayed diagnosis can still be valuable for the proband or the relatives of BMD patients
AB - The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995. All requests for DNA analysis of the DMD gene in probands with suspected BMD were re-evaluated. If the phenotype was compatible with BMD, and no deletions or duplications were detected, DNA samples were screened for small mutations. In 79 of 185 referrals, no mutation was found. Analysis could be performed on 31 DNA samples. Seven different mutations, including 3 novel ones, were found. Long-term clinical follow-up is described. Refining DNA analysis in previously undiagnosed cases can identify mutations in the DMD gene and provide genetic diagnosis of BMD. A delayed diagnosis can still be valuable for the proband or the relatives of BMD patients
U2 - https://doi.org/10.1002/mus.24691
DO - https://doi.org/10.1002/mus.24691
M3 - Article
C2 - 25900853
SN - 0148-639X
VL - 53
SP - 44
EP - 48
JO - Muscle & Nerve
JF - Muscle & Nerve
IS - 1
ER -