Open AccessNovel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy
Author(s) -
Young-Eun Park,
JinHong Shin,
Hyang-Sook Kim,
DaeSeong Kim
Publication year - 2018
Publication title -
annals of clinical neurophysiology
Language(s) - English
Resource type - Journals
eISSN - 2508-6960
pISSN - 2508-691X
DOI - 10.14253/acn.2018.20.2.89
Subject(s) - muscle contracture , phenotype , collagen vi , muscular dystrophy , medicine , proximal muscle weakness , mutation , pathology , genetics , gene , biology , anatomy , biopsy , muscle biopsy
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