Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
Author(s) -
Dahye Kim,
Yoon-Myung Kim,
Go Hun Seo,
Gu Hwan Kim,
Han Wook Yoo,
MiSun Yum,
TaeSung Ko,
Beom Hee Lee
Publication year - 2017
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
eISSN - 2233-9108
pISSN - 1226-1769
DOI - 10.5734/jgm.2017.14.2.75
Subject(s) - duchenne muscular dystrophy , muscle biopsy , muscular dystrophy , medicine , genetic counseling , differential diagnosis , muscle weakness , biopsy , genetic testing , dystrophin , bioinformatics , pathology , genetics , biology
and may have near normal lives [2,3]. The differential diagnosis of BMD and DMD in suspected cases is based on their clinical findings, muscle biopsy, and the mutations in DMD. Among these, positive staining for dystrophin in muscle biopsies is an important finding in the differential diagnosis [4,5]. However, since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutations in DMD gene identified in the patient. According to the mutation database or previous reports, each DMD mutation is classified as either a DMDor BMDcausing mutation [6]. However, when a novel DMD mutation is identified, the differential diagnosis should be based on the muscle biopsy findings along with other clinical findings. Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
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