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Quoted phrase not found in phrase index: "Collagen 6-related myopathy"
Page 1
Electrical impedance myography in individuals with collagen 6 and laminin alpha-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Muscle Nerve. 2018 Jan;57(1):54-60. doi: 10.1002/mus.25629. Epub 2017 Apr 25.
Muscle Nerve. 2018.
PMID: 28224647
Free PMC article.
We compared EIM measurements to function, strength, and disease severity in a population with congenital muscular dystrophy (CMD). METHODS: Forty-one patients with CMD, either collagen 6 related disorders (COL6-RD; n = 21) or laminin alpha-2-related di …
We compared EIM measurements to function, strength, and disease severity in a population with congenital muscular dystrophy (CMD). ME …
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.
D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E.
D'Amico A, et al.
Eur J Paediatr Neurol. 2017 Nov;21(6):873-883. doi: 10.1016/j.ejpn.2017.07.009. Epub 2017 Jul 22.
Eur J Paediatr Neurol. 2017.
PMID: 28760337
BACKGROUND: Collagen VI-related disorders (COL6-RD) are a group of heterogenous muscular diseases due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. Ullrich congenital mu …
BACKGROUND: Collagen VI-related disorders (COL6-RD) are a group of heterogenous muscular diseases due to mutations in t …
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