|
1
|
Paternostro-Sluga T, Grim-Stieger M, Posch
M, Schuhfried O, Vacariu G, Mittermaier C, Bittner C and
Fialka-Moser V: Reliability and validity of the Medical Research
Council (MRC) scale and a modified scale for testing muscle
strength in patients with radial palsy. J Rehabil Med. 40:665–671.
2008. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Fischer D, Kley RA, Strach K, Meyer C,
Sommer T, Eger K, Rolfs A, Meyer W, Pou A, Pradas J, et al:
Distinct muscle imaging patterns in myofibrillar myopathies.
Neurology. 71:758–765. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Li H and Durbin R: Fast and accurate
long-read alignment with Burrows-Wheeler transform. Bioinformatics.
26:589–595. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Zhang L, Zhang J, Yang J, Ying D, Lau YL
and Yang W: PriVar: a toolkit for prioritizing SNVs and indels from
next-generation sequencing data. Bioinformatics. 29:124–125. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Yang Y, Muzny DM, Reid JG, Bainbridge MN,
Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, et al:
Clinical whole-exome sequencing for the diagnosis of mendelian
disorders. N Engl J Med. 369:1502–1511. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Tomé FM, Evangelista T, Leclerc A, Sunada
Y, Manole E, Estournet B, Barois A, Campbell KP and Fardeau M:
Congenital muscular dystrophy with merosin deficiency. C R AcadSci
III. 317:351–357. 1994.
|
|
7
|
Xiong H, Tan D, Wang S, Song S, Yang H,
Gao K, Liu A, Jiao H, Mao B, Ding J, et al: Genotype/phenotype
analysis in Chinese laminin-α2 deficient congenital muscular
dystrophy patients. Clin Genet. 87:233–243. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Fardeau M, Tomé FM, Helbling-Leclerc A,
Evangelista T, Ottolini A, Chevallay M, Barois A, Estournet B,
Harpey JP, Fauré S, et al: Congenital muscular dystrophy with
merosin deficiency: Clinical, histopathological, immunocytochemical
and genetic analysis. Rev Neurol (Paris). 152:11–19. 1996.(In
French). PubMed/NCBI
|
|
9
|
Incecik F, Herguner OM, Ceylaner S and
Altunbasak S: Merosin-negative congenital muscular dystrophy:
Report of five cases. J Pediatr Neurosci. 10:346–349. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Peters SA, Kohler C, Schara U, Hohendahl
J, Vorgerd M, Nicolas V and Heyer CM: Museular magnetic resonance
imaging for evaluation of myopathies in children. Klin Padiatr.
220:37–46. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Cejas CP, Serra MM, Galvez DFG, Cavassa
EA, Taratuto AL, Vazquez GA, Massaro MEL and Schteinschneider AV:
Muscle MRI in pediatrics: Clinical, pathological and genetic
correlation. Pediatr Radiol. 47:724–735. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Díaz-Manera J, Llauger J, Gallardo E and
Illa I: Muscle MRI in muscular dystrophies. Acta Myol. 34:95–108.
2015.PubMed/NCBI
|
|
13
|
Polavarapu K, Manjunath M, Preethish-Kumar
V, Sekar D, Vengalil S, Thomas P, Sathyaprabha TN, Bharath RD and
Nalini A: Muscle MRI in Duchenne muscular dystrophy: Evidence of a
distinctive pattern. Neuromuscul Disord. 26:768–774. 2016.
View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Fatehi F, Salort-Campana E, Le Troter A,
Bendahan D and Attarian S: Muscle MRI of facioscapulohumeral
dystrophy (FSHD): A growing demand and a promising approach. Rev
Neurol (Paris). 172:566–571. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Harris E, McEntagart M, Topf A, Lochmüller
H, Bushby K, Sewry C and Straub V: Clinical and neuroimaging
findings in two brothers with limb girdle muscular dystrophy due to
LAMA2 mutations. Neuromuscul Disord. 27:170–174. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Mercuri E, Clements E, Offiah A,
Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M,
Messina S, et al: Muscle magnetic resonance imaging involvement in
muscular dystrophies with rigidity of the spine. Ann Neurol.
67:201–208. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Flanigan KM, Kerr L, Bromberg MB, Leonard
C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP and
Leppert M: Congenital muscular dystrophy with rigid spine syndrome:
A clinical, pathological, radiological, and genetic study. Ann
Neurol. 47:152–161. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Godi C, Ambrosi A, Nicastro F, Previtali
SC, Santarosa C, Napolitano S, Iadanza A, Scarlato M, Sora MG
Natali, Tettamanti A, et al: Longitudinal MRI quantification of
muscle degeneration in Duchenne muscular dystrophy. Ann Clin Transl
Neurol. 3:607–622. 2016. View
Article : Google Scholar : PubMed/NCBI
|
|
19
|
Vohra RS, Lott D, Mathur S, Senesac C,
Deol J, Germain S, Bendixen R, Forbes SC, Sweeney HL, Walter GA, et
al: Magnetic resonance assessment of hypertrophic and
pseudo-hypertrophic changes in lower leg muscles of boys with
Duchenne muscular dystrophy and their relationship to functional
measurements. PLoS One. 10:e01289152015. View Article : Google Scholar : PubMed/NCBI
|
