[Research advances in limb-girdle muscular dystrophy type 2Q].
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ABSTRACT:
SUBMITTER: Zhang M
PROVIDER: S-EPMC7389895 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
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[Research advances in limb-girdle muscular dystrophy type 2Q].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20190801 8
Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies with predominantly proximal muscular weakness, and some genes associated with this disease have been identified at present. LGMD type 2Q (LGMD2Q) is a subtype of LGMD and is associated with PLEC gene mutation. Major phenotypes of PLEC gene mutation include epidermolysis bullosa with late-onset muscular dystrophy and epidermolysis bullosa with other lesions. LGMD2Q without skin lesions is rarely reported. This article review ...[more]
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