1
|
Durbeej M: Laminin-α2 Chain-Deficient
Congenital Muscular Dystrophy: Pathophysiology and Development of
Treatment. Curr Top Membr. 76:31–60. 2015.PubMed/NCBI View Article : Google Scholar
|
2
|
Allamand V and Guicheney P:
Merosin-deficient congenital muscular dystrophy, autosomal
recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of
laminin). Eur J Hum Genet. 10:91–94. 2002.PubMed/NCBI View Article : Google Scholar
|
3
|
Philpot J, Sewry C, Pennock J and Dubowitz
V: Clinical phenotype in congenital muscular dystrophy: Correlation
with expression of merosin in skeletal muscle. Neuromuscul Disord.
5:301–305. 1995.PubMed/NCBI View Article : Google Scholar
|
4
|
Colognato H and Yurchenco PD: Form and
function: The laminin family of heterotrimers. Dev Dyn.
218:213–234. 2000.PubMed/NCBI View Article : Google Scholar
|
5
|
Holmberg J and Durbeej M: Laminin-211 in
skeletal muscle function. Cell Adhes Migr. 7:111–121.
2013.PubMed/NCBI View Article : Google Scholar
|
6
|
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.PubMed/NCBI View Article : Google Scholar
|
7
|
Oliveira J, Gruber A, Cardoso M, Taipa R,
Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, et
al: LAMA2 gene mutation update: Toward a more comprehensive picture
of the laminin-α2 variome and its related phenotypes. Hum Mutat.
39:1314–1337. 2018.PubMed/NCBI View Article : Google Scholar
|
8
|
Zhou J, Tan J, Ma D, Zhang J, Cheng J, Luo
C, Liu G, Wang Y and Xu Z: Identification of Two Novel LAMA2
Mutations in a Chinese Patient with Congenital Muscular Dystrophy.
Front Genet. 9(43)2018.PubMed/NCBI View Article : Google Scholar
|
9
|
Xu B, Ionita-Laza I, Roos JL, Boone B,
Woodrick S, Sun Y, Levy S, Gogos JA and Karayiorgou M: De novo gene
mutations highlight patterns of genetic and neural complexity in
schizophrenia. Nat Genet. 44:1365–1369. 2012.PubMed/NCBI View
Article : Google Scholar
|
10
|
Yu M, Zheng Y, Jin S, Gang Q, Wang Q, Yu
P, Lv H, Zhang W, Yuan Y and Wang Z: Mutational spectrum of Chinese
LGMD patients by targeted next-generation sequencing. PLoS One.
12(e0175343)2017.PubMed/NCBI View Article : Google Scholar
|
11
|
Chae JH, Lee JS, Hwang H, Kim KJ, Hwang
YS, Park JD, Cheon JE, Kim IO, Choe GY and Park SH:
Merosin-deficient congenital muscular dystrophy in Korea. Brain
Dev. 31:341–346. 2009.PubMed/NCBI View Article : Google Scholar
|
12
|
Dubowitz V, Oldfors A and Sewry C: Muscle
Biopsy: A Practical Approach. 4th edition. Saunders Elsevier.
2013.
|
13
|
Fischer AH, Jacobson KA, Rose J and Zeller
R: Hematoxylin and eosin staining of tissue and cell sections. Cold
Spring Harb Protoc. 2008(pdb.prot4986)2008.PubMed/NCBI View Article : Google Scholar
|
14
|
Li H and Durbin R: Fast and accurate short
read alignment with Burrows-Wheeler transform. Bioinformatics.
25:1754–1760. 2009.PubMed/NCBI View Article : Google Scholar
|
15
|
Rimmer A, Phan H, Mathieson I, Iqbal Z,
Twigg SRF, Wilkie AOM, McVean G and Lunter G: WGS500 Consortium:
Integrating mapping-, assembly- and haplotype-based approaches for
calling variants in clinical sequencing applications. Nat Genet.
46:912–918. 2014.PubMed/NCBI View
Article : Google Scholar
|
16
|
DePristo MA, Banks E, Poplin R, Garimella
KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA,
Hanna M, et al: A framework for variation discovery and genotyping
using next-generation DNA sequencing data. Nat Genet. 43:491–498.
2011.PubMed/NCBI View
Article : Google Scholar
|
17
|
McKenna A, Hanna M, Banks E, Sivachenko A,
Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly
M, et al: The Genome Analysis Toolkit: A MapReduce framework for
analyzing next-generation DNA sequencing data. Genome Res.
20:1297–1303. 2010.PubMed/NCBI View Article : Google Scholar
|
18
|
Auton A, Brooks LD, Durbin RM, Garrison
EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA and
Abecasis GR: 1000 Genomes Project Consortium: A global reference
for human genetic variation. Nature. 526:68–74. 2015.PubMed/NCBI View Article : Google Scholar
|
19
|
Cingolani P, Platts A, Wang L, Coon M,
Nguyen T, Wang L, Land SJ, Lu X and Ruden DM: A program for
annotating and predicting the effects of single nucleotide
polymorphisms, SnpEff: SNPs in the genome of Drosophila
melanogaster strain w1118; iso-2; iso-3. Fly
(Austin). 6:80–92. 2012.PubMed/NCBI View Article : Google Scholar
|
20
|
Stenson PD, Ball EV, Mort M, Phillips AD,
Shiel JA, Thomas NS, Abeysinghe S, Krawczak M and Cooper DN: Human
Gene Mutation Database (HGMD): 2003 update. Hum Mutat. 21:577–581.
2003.PubMed/NCBI View Article : Google Scholar
|
21
|
Adzhubei IA, Schmidt S, Peshkin L,
Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A
method and server for predicting damaging missense mutations. Nat
Methods. 7:248–249. 2010.PubMed/NCBI View Article : Google Scholar
|
22
|
Choi Y and Chan AP: PROVEAN web server: A
tool to predict the functional effect of amino acid substitutions
and indels. Bioinformatics. 31:2745–2747. 2015.PubMed/NCBI View Article : Google Scholar
|
23
|
Venselaar H, Te Beek TAH, Kuipers RKP,
Hekkelman ML and Vriend G: Protein structure analysis of mutations
causing inheritable diseases. An e-Science approach with life
scientist friendly interfaces. BMC Bioinformatics.
11(548)2010.PubMed/NCBI View Article : Google Scholar
|
24
|
Paganoni S and Amato A: Electrodiagnostic
evaluation of myopathies. Phys Med Rehabil Clin N Am. 24:193–207.
2013.PubMed/NCBI View Article : Google Scholar
|
25
|
Palisano R, Rosenbaum P, Walter S, Russell
D, Wood E and Galuppi B: Development and reliability of a system to
classify gross motor function in children with cerebral palsy. Dev
Med Child Neurol. 39:214–223. 1997.PubMed/NCBI View Article : Google Scholar
|
26
|
Hanna SE, Bartlett DJ, Rivard LM and
Russell DJ: Reference curves for the Gross Motor Function Measure:
Percentiles for clinical description and tracking over time among
children with cerebral palsy. Phys Ther. 88:596–607.
2008.PubMed/NCBI View Article : Google Scholar
|
27
|
Russell DJ, Rosenbaum PL, Cadman DT,
Gowland C, Hardy S and Jarvis S: The gross motor function measure:
A means to evaluate the effects of physical therapy. Dev Med Child
Neurol. 31:341–352. 1989.PubMed/NCBI View Article : Google Scholar
|
28
|
Bohannon RW and Smith MB: Interrater
reliability of a modified Ashworth scale of muscle spasticity. Phys
Ther. 67:206–207. 1987.PubMed/NCBI View Article : Google Scholar
|
29
|
Ewing B and Green P: Base-calling of
automated sequencer traces using phred. II. Error probabilities.
Genome Res. 8:186–194. 1998.PubMed/NCBI View Article : Google Scholar
|
30
|
Le VS, Tran KT, Bui HTP, Le HTT Nguyen CD,
Do DH, Ly HTT, Pham LTD, Dao LTM and Nguyen LT: A Vietnamese human
genetic variation database. Hum Mutat. 40:1664–1675.
2019.PubMed/NCBI View Article : Google Scholar
|
31
|
Hayashi YK, Tezak Z, Momoi T, Nonaka I,
Garcia CA, Hoffman EP and Arahata K: Massive muscle cell
degeneration in the early stage of merosin-deficient congenital
muscular dystrophy. Neuromuscul Disord. 11:350–359. 2001.PubMed/NCBI View Article : Google Scholar
|
32
|
Sparks SE and Escolar DM: Congenital
muscular dystrophies. In: Handbook of Clinical Neurology. Griggs RC
and Amato AA (eds). Vol 101. Elsevier. pp47–79. 2011.
|
33
|
Canki-Klain N, Béroud C, Clarke NF, Kovac
I, Chambert S and Guicheney P: EM.P.3.01 The adult phenotype of
congenital muscular dystrophy (MDC1A) due to mutation of LAMA2.
Neuromuscul Disord. 19(574)2009. View Article : Google Scholar
|
34
|
Jones KJ, Morgan G, Johnston H, Tobias V,
Ouvrier RA, Wilkinson I and North KN: The expanding phenotype of
laminin α2 chain (merosin) abnormalities: Case series and review. J
Med Genet. 38:649–657. 2001.PubMed/NCBI View Article : Google Scholar
|
35
|
Reddy HM, Cho KA, Lek M, Estrella E,
Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG,
et al: The sensitivity of exome sequencing in identifying
pathogenic mutations for LGMD in the United States. J Hum Genet.
62:243–252. 2017.PubMed/NCBI View Article : Google Scholar
|
36
|
Retterer K, Juusola J, Cho MT, Vitazka P,
Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J,
Monaghan KG, et al: Clinical application of whole-exome sequencing
across clinical indications. Genet Med. 18:696–704. 2016.PubMed/NCBI View Article : Google Scholar
|
37
|
Yang Y, Muzny DM, Xia F, Niu Z, Person R,
Ding Y, Ward P, Braxton A, Wang M, Buhay C, et al: Molecular
findings among patients referred for clinical whole-exome
sequencing. JAMA. 312:1870–1879. 2014.PubMed/NCBI View Article : Google Scholar
|